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
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:209933708G>A	ENST00000367024.1	+	3	840	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367025.3_Silent_p.R108R|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000													7	10					0	0	0.000274	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260760	42260760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:42260760C>T	ENST00000199764.6	+	2	535	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	106	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCAATGCATCCCTGCTGATC	0.463000													18	262					0	0	0.001271	0	0
SLC25A3	5250	broad.mit.edu	37	12	98995011	98995011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:98995011G>A	ENST00000188376.5	+	6	1231	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SLC25A3_ENST00000228318.3_Missense_Mutation_p.E294K|SLC25A3_ENST00000551917.1_Missense_Mutation_p.E294K|SLC25A3_ENST00000401722.3_Missense_Mutation_p.E293K|SLC25A3_ENST00000549338.1_Missense_Mutation_p.E293K|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000552981.1_Missense_Mutation_p.E293K	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	294					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTTGAATAAAGAAAAAGGTAG	0.378000													22	20					0	0	0.003954	0	0
APOB	338	broad.mit.edu	37	2	21225528	21225528	+	Missense_Mutation	SNP	C	C	T	rs61743313	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:21225528C>T	ENST00000233242.1	-	29	12893	c.12766G>A	c.(12766-12768)Gag>Aag	p.E4256K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4256					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTTAACTCGAAAGGAAGT	0.378000													261	312					0	0	0.003610	0	0
TBC1D14	57533	broad.mit.edu	37	4	7032106	7032106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:7032106C>T	ENST00000409757.4	+	14	2193	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	TBC1D14_ENST00000448507.1_Missense_Mutation_p.S690F|TBC1D14_ENST00000446947.2_Missense_Mutation_p.S337F|TBC1D14_ENST00000451522.2_Missense_Mutation_p.S410F|TBC1D14_ENST00000410031.1_Missense_Mutation_p.S462F	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	690						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GGAAGTCCGTCCCTCCGACAC	0.587000													15	19					0	0	0.000743	0	0
HJURP	55355	broad.mit.edu	37	2	234750117	234750117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:234750117G>A	ENST00000411486.2	-	8	1374	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	HJURP_ENST00000441687.1_Nonsense_Mutation_p.R352*|HJURP_ENST00000432087.1_Nonsense_Mutation_p.R383*	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	437					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)		TGATCAAATCGGATTTCAATC	0.488000													59	83					0	0	0.003610	0	0
NRP1	8829	broad.mit.edu	37	10	33495124	33495124	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:33495124C>T	ENST00000374816.3	-	11	2056	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374823.5_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000265371.4_Intron			O14786	NRP1_HUMAN	neuropilin 1	0					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCTACAGATTCGCATCCAGGG	0.488000													18	7					0	0	0.001882	0	0
FZD2	2535	broad.mit.edu	37	17	42636370	42636370	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:42636370C>T	ENST00000315323.3	+	1	1446	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	438					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGTCGCTCTTCCGCATCC	0.632000													35	43					0	0	0.001111	0	0
SF3B2	10992	broad.mit.edu	37	11	65826341	65826341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:65826341C>T	ENST00000528302.1	+	9	1010	c.956C>T	c.(955-957)cCc>cTc	p.P319L	SF3B2_ENST00000322535.6_Missense_Mutation_p.P336L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGAAAAAGCCCCAGCGGGTG	0.567000													14	24					0	0	0.003163	0	0
TRIM24	8805	broad.mit.edu	37	7	138239496	138239496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:138239496C>T	ENST00000343526.4	+	9	1530	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.P439S			O15164	TIF1A_HUMAN	tripartite motif containing 24	439					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TAAGCAGAATCCTGTCGTGGA	0.418000													90	50					0	0	0.003610	0	0
C4BPA	722	broad.mit.edu	37	1	207297568	207297568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:207297568G>A	ENST00000367070.3	+	6	757	c.563G>A	c.(562-564)gGt>gAt	p.G188D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	188	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGGCACAGCGGTGAAGAAAAT	0.478000													34	53					0	0	0.002836	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232280	125232280	+	RNA	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:125232280C>T	ENST00000439075.1	-	0	2465					NR_026876.1																						TTTCCTGAACCTTTGCTCCTG	0.343000													9	6					0	0	0.000274	0	0
MGAM	8972	broad.mit.edu	37	7	141758123	141758123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:141758123C>T	ENST00000475668.2	+	31	3868	c.3814C>T	c.(3814-3816)Cct>Tct	p.P1272S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1272S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1272	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCCCAGATCCCTTATGTACG	0.478000													153	92					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78573376	78573376	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:78573376G>C	ENST00000397909.2	+	29	5604	c.5431G>C	c.(5431-5433)Gaa>Caa	p.E1811Q	NAV3_ENST00000228327.6_Missense_Mutation_p.E1789Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E1612Q|NAV3_ENST00000536525.2_Missense_Mutation_p.E1789Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1811						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.E1789K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGAGAAAAGGAATTAAAATT	0.483000										HNSCC(70;0.22)			33	46					0	0	0.003271	0	0
CFTR	1080	broad.mit.edu	37	7	117180348	117180348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:117180348C>T	ENST00000003084.6	+	8	1196	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	CFTR_ENST00000454343.1_Missense_Mutation_p.P355L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	355	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CGGCAATTTCCCTGGGCTGTA	0.403000									Cystic Fibrosis				43	90					0	0	0.003610	0	0
LILRA4	23547	broad.mit.edu	37	19	54848870	54848870	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54848870G>A	ENST00000291759.4	-	5	809	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	251	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAGTGTATCTGATGTAGCCGA	0.662000													11	17					0	0	0.000978	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102038085	102038085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:102038085C>T	ENST00000496391.1	+	6	1455	c.145C>T	c.(145-147)Cca>Tca	p.P49S	PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P49S|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.P11S			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	49	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						AGTTCCAATTCCAGAGAAAAT	0.413000													33	64					0	0	0.004289	0	0
CACNA1S	779	broad.mit.edu	37	1	201079333	201079333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:201079333G>A	ENST00000362061.3	-	2	443	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P73S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	73					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCGGCATGGGCAGGTACACG	0.602000													43	90					0	0	0.003610	0	0
PLCG2	5336	broad.mit.edu	37	16	81962173	81962173	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:81962173A>C	ENST00000359376.3	+	24	2739	c.2525A>C	c.(2524-2526)gAc>gCc	p.D842A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	842					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATTATTGAAGACAATCCCTTA	0.418000													31	59					0	0	0.000954	0	0
DNAH8	1769	broad.mit.edu	37	6	38690646	38690646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:38690646G>A	ENST00000449981.2	+	2	170	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCTCTACGGAAGAGGCTGC	0.602000													8	14					0	0	0.000274	0	0
ASUN	55726	broad.mit.edu	37	12	27067475	27067475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:27067475G>A	ENST00000261191.7	-	12	1821	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	ASUN_ENST00000539625.1_Missense_Mutation_p.P328S	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	429					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TCTAGAAAAGGAGTTAATCTG	0.343000													12	19					0	0	0.001855	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792491	8792491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:8792491C>T	ENST00000447110.1	-	9	984	c.860G>A	c.(859-861)aGg>aAg	p.R287K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.R287K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.R287K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	287				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTGTAGCACCTGGCGACAGG	0.592000													22	11					0	0	0.002096	0	0
ZNF93	81931	broad.mit.edu	37	19	20044200	20044200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:20044200C>T	ENST00000343769.5	+	4	464	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CAAAGTATTTCAATGTGATAA	0.318000													23	12					0	0	0.002299	0	0
PDZD8	118987	broad.mit.edu	37	10	119044301	119044301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:119044301G>A	ENST00000334464.5	-	5	2182	c.1943C>T	c.(1942-1944)cCt>cTt	p.P648L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	648					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AAATTGCTTAGGTGCAGCTGC	0.458000													34	8					0	0	0.002445	0	0
S100A16	140576	broad.mit.edu	37	1	153580502	153580502	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:153580502G>A	ENST00000368704.1	-	2	311	c.126C>T	c.(124-126)ctC>ctT	p.L42L	S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.L42L|S100A16_ENST00000368705.2_Silent_p.L42L|S100A16_ENST00000368703.2_Silent_p.L42L			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	42	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCTTTCTGGAGCATCTCGC	0.542000													18	28					0	0	0.001216	0	0
SCN4A	6329	broad.mit.edu	37	17	62024439	62024439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:62024439G>A	ENST00000435607.1	-	18	3483	c.3407C>T	c.(3406-3408)cCc>cTc	p.P1136L	SCN4A_ENST00000578147.1_Missense_Mutation_p.P1136L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1136					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCCTCAGGGGACGCAGGGC	0.672000											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0.001984	0	0
C3orf67	200844	broad.mit.edu	37	3	58849475	58849475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:58849475C>T	ENST00000472469.1	-	11	1586	c.748G>A	c.(748-750)Gag>Aag	p.E250K	C3orf67_ENST00000482387.1_Missense_Mutation_p.E343K|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.E343K|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	343										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGGGATTCCTCTGCCTGCTGG	0.517000													59	80					0	0	0.003610	0	0
XRRA1	143570	broad.mit.edu	37	11	74570238	74570238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:74570238G>A	ENST00000340360.6	-	12	1442	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	371					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTCAGCTCTGGGAAGGGTGGG	0.517000													19	0					0	0	0.001216	0	0
ENTPD5	957	broad.mit.edu	37	14	74436806	74436806	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:74436806G>A	ENST00000334696.6	-	15	1426	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ENTPD5_ENST00000557325.1_Silent_p.F369F	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	369					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGCCTGAGGTGAAGTTTTCCA	0.448000													24	3					0	0	0.000721	0	0
KCNB2	9312	broad.mit.edu	37	8	73848366	73848366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:73848366G>A	ENST00000523207.1	+	3	1364	c.776G>A	c.(775-777)tGg>tAg	p.W259*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	259					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAAATAAATGGAAGTTCTTC	0.458000													42	43					0	0	0.001951	0	0
DNAH8	1769	broad.mit.edu	37	6	38980370	38980370	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:38980370G>A	ENST00000359357.3	+	89	13274	c.13020G>A	c.(13018-13020)ggG>ggA	p.G4340G	DNAH8_ENST00000441566.1_Silent_p.G4304G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGAAGGGAGGCCTAATG	0.428000													72	103					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38798227	38798227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:38798227C>T	ENST00000449082.2	-	9	1227	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	410					sensory perception	voltage-gated sodium channel complex		p.E410Q(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTCAATTTCATCAGTGGTT	0.498000													70	63					0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167246977	167246977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:167246977C>T	ENST00000308378.3	-	10	1518	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	WDR49_ENST00000476376.1_Missense_Mutation_p.D230N|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.D469N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	405										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTATATATATCCCAAAATCTG	0.383000													18	27					0	0	0.000958	0	0
HOXA1	3198	broad.mit.edu	37	7	27135280	27135280	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:27135280C>T	ENST00000343060.4	-	1	313	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HOXA1_ENST00000355633.5_Silent_p.G84G|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	84						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G84G(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCCCAGGTTCCCGGAAGTCT	0.612000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	52	21					0	0	0.003610	0	0
CNTN3	5067	broad.mit.edu	37	3	74334517	74334517	+	Silent	SNP	A	A	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:74334517A>C	ENST00000263665.6	-	19	2670	c.2643T>G	c.(2641-2643)gcT>gcG	p.A881A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	881	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACTGTTGTAAGCCCGGACAG	0.483000													57	100					0	0	0.003610	0	0
TMC2	117532	broad.mit.edu	37	20	2593840	2593840	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:2593840G>A	ENST00000358864.1	+	14	1759	c.1743_splice	c.e14-1	p.E582_splice	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	582						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTCTGCAGGAATTCATGAG	0.537000													10	19					0	0	0.000673	0	0
CHRM2	1129	broad.mit.edu	37	7	136700761	136700761	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:136700761G>A	ENST00000445907.2	+	3	1677	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.K383K|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.K383K|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Silent_p.K383K|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.K383K|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Silent_p.K383K|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	383					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCCGGGAAAAGAAAGTCACCA	0.458000													74	41					0	0	0.003610	0	0
LGI2	55203	broad.mit.edu	37	4	25030187	25030187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:25030187C>T	ENST00000382114.4	-	2	396	c.211G>A	c.(211-213)Ggg>Agg	p.G71R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	71						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GAAAACGTCCCATTTACCAGG	0.507000													4	13					0	0	0.000248	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F|KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													21	15					0	0	0.001216	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606281	7606281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:7606281C>T	ENST00000342415.5	+	8	883	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	275					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAAGGCGATCAGCTTCAGTA	0.418000													28	44					0	0	0.001271	0	0
ATR	545	broad.mit.edu	37	3	142215206	142215206	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:142215206G>A	ENST00000350721.4	-	34	6016	c.5895C>T	c.(5893-5895)tcC>tcT	p.S1965S	ATR_ENST00000383101.3_Silent_p.S1901S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1965	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATTACCTTGGACCAGAGCC	0.363000								Other conserved DNA damage response genes					19	37					0	0	0.000958	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509972	41509972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41509972G>A	ENST00000324071.4	+	2	245	c.238G>A	c.(238-240)Gga>Aga	p.G80R	CYP2B6_ENST00000593831.1_Missense_Mutation_p.G4R|CYP2B6_ENST00000330446.5_Missense_Mutation_p.G40R|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	80					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CATGCTGTGTGGAGTAGAGGC	0.582000													31	46					0	0	0.004289	0	0
PBLD	64081	broad.mit.edu	37	10	70056087	70056087	+	Silent	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:70056087C>A	ENST00000358769.2	-	4	421	c.219G>T	c.(217-219)gcG>gcT	p.A73A	PBLD_ENST00000309049.4_Silent_p.A73A|PBLD_ENST00000277795.4_Intron|PBLD_ENST00000432941.1_Silent_p.A73A|PBLD_ENST00000336578.1_Silent_p.A40A	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	73					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGACCTCACTCGCTGGTGTAA	0.453000													15	2					8.00594e-06	2.98106e-05	0.000958	1	0
POU1F1	5449	broad.mit.edu	37	3	87313611	87313611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:87313611C>T	ENST00000350375.2	-	3	390	c.266G>A	c.(265-267)gGa>gAa	p.G89E	POU1F1_ENST00000560656.1_Missense_Mutation_p.G89E|POU1F1_ENST00000344265.3_Missense_Mutation_p.G115E	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	89					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGGAGGAAATCCATGACTCAA	0.423000													50	42					0	0	0.003610	0	0
MYCT1	80177	broad.mit.edu	37	6	153043010	153043010	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:153043010G>A	ENST00000367245.5	+	2	338	c.330G>A	c.(328-330)agG>agA	p.R110R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	110						nucleus		p.R110R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GTTCAAGCAGGAGATCTAGGT	0.517000													39	54					0	0	0.001706	0	0
CERKL	375298	broad.mit.edu	37	2	182409513	182409513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:182409513C>T	ENST00000410087.3	-	11	1379	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	CERKL_ENST00000374969.2_Missense_Mutation_p.G314R|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.G409R|CERKL_ENST00000374970.2_Missense_Mutation_p.G358R|CERKL_ENST00000339098.5_Missense_Mutation_p.G453R	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	453					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCCATACTTCCATTATTTAAT	0.284000													11	21					0	0	0.001368	0	0
PHF3	23469	broad.mit.edu	37	6	64422811	64422811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:64422811C>T	ENST00000262043.3	+	16	5667	c.5327C>T	c.(5326-5328)cCt>cTt	p.P1776L	PHF3_ENST00000393387.1_Missense_Mutation_p.P1776L			Q92576	PHF3_HUMAN	PHD finger protein 3	1776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCAGAATTTCCTTCTAAAAGC	0.428000													32	39					0	0	0.001786	0	0
CDH9	1007	broad.mit.edu	37	5	26885885	26885885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:26885885C>T	ENST00000231021.4	-	11	1892	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGGATAATCGTTGTCAAAG	0.453000													16	29					0	0	0.003163	0	0
MNDA	4332	broad.mit.edu	37	1	158817534	158817534	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:158817534A>G	ENST00000368141.4	+	6	1265	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	335	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GTACACAAGAAGAACACAATT	0.363000													29	58					0	0	0.002096	0	0
ZNF600	162966	broad.mit.edu	37	19	53269306	53269306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53269306G>A	ENST00000338230.3	-	3	1970	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAACAAGGGATGGCTTGTG	0.438000													63	84					0	0	0.003610	0	0
PRKG2	5593	broad.mit.edu	37	4	82063963	82063963	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:82063963G>A	ENST00000395578.1	-	11	1508	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.F464F|PRKG2_ENST00000418486.2_Intron|PRKG2_ENST00000545647.1_Silent_p.F44F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	464	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAACTCTTCCGAACCCACCAA	0.423000													87	16					0	0	0.003610	0	0
CTLA4	1493	broad.mit.edu	37	2	204735604	204735604	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:204735604C>T	ENST00000302823.3	+	2	562	c.405C>T	c.(403-405)taC>taT	p.Y135Y	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Silent_p.Y98Y|CTLA4_ENST00000295854.6_Silent_p.Y135Y|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	135	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	AGCTCATGTACCCACCGCCAT	0.512000													10	29					0	0	0.000443	0	0
SLC25A6	293	broad.mit.edu	37	X	1505546	1505546	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:1505546C>A	ENST00000381401.5	-	4	1560	c.846G>T	c.(844-846)atG>atT	p.M282I		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	282					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.G284fs*14(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	AGGCGCCCCCCATGCCCCGCA	0.607000													63	76					2.26907e-38	8.59249e-38	0.003610	1	0
KLHL30	377007	broad.mit.edu	37	2	239057733	239057733	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:239057733C>T	ENST00000409223.1	+	7	1532	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	KLHL30_ENST00000305959.4_Silent_p.L457L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	475										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCTCTACCTCATTGGGGACA	0.657000													15	16					0	0	0.000743	0	0
MXRA5	25878	broad.mit.edu	37	X	3261695	3261695	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:3261695G>A	ENST00000217939.6	-	2	334	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	60						extracellular region		p.I60M(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCCCAAATTGATTCTTTCCA	0.532000													14	1					0	0	0.004007	0	0
BRAT1	221927	broad.mit.edu	37	7	2583254	2583254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:2583254G>A	ENST00000340611.4	-	5	1029	c.773C>T	c.(772-774)tCg>tTg	p.S258L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	258					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTCCACGAACGAGTGTGCGGC	0.687000													54	37					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240371827	240371827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:240371827C>T	ENST00000319653.9	+	5	3945	c.3715C>T	c.(3715-3717)Cct>Tct	p.P1239S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1239	FH1.|Pro-rich.				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)			CCCTCTGCTTCCTGTATCAGG	0.592000													4	21					0	0	0.000248	0	0
CDR2	1039	broad.mit.edu	37	16	22385600	22385600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:22385600C>A	ENST00000268383.2	-	1	338	c.31G>T	c.(31-33)Gag>Tag	p.E11*	CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	11						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736000													38	46					1.02591e-13	3.84858e-13	0.002522	1	0
ZNF205	7755	broad.mit.edu	37	16	3168905	3168905	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:3168905G>A	ENST00000382192.3	+	6	689		c.e6-1		RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Splice_Site	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TTTCTGGGCAGGCTTTCCCTT	0.632000													31	93					0	0	0.002445	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630675	41630675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41630675C>T	ENST00000331105.2	+	8	1088	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	339					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCTGCCGGCGCTGAAGGAC	0.677000													13	11					0	0	0.000566	0	0
SORCS2	57537	broad.mit.edu	37	4	7705995	7705995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:7705995G>A	ENST00000507866.2	+	14	1961	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SORCS2_ENST00000329016.9_Missense_Mutation_p.E446K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	618						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCAGGGGACGAGACGCTGGT	0.657000													5	6					0	0	0.001168	0	0
CEACAM1	634	broad.mit.edu	37	19	43031300	43031300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:43031300G>A	ENST00000161559.6	-	2	451	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEACAM1_ENST00000351134.3_Missense_Mutation_p.S106F|CEACAM1_ENST00000358394.3_Missense_Mutation_p.S106F|CEACAM1_ENST00000352591.5_Missense_Mutation_p.S106F|CEACAM1_ENST00000599389.1_Missense_Mutation_p.S106F|CEACAM1_ENST00000403444.3_Missense_Mutation_p.S106F|CEACAM1_ENST00000308072.4_Missense_Mutation_p.S66F|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.S106F	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	106	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GATCAGCAGGGATGCATTGGG	0.478000													20	239					0	0	0.002780	0	0
CNGA2	1260	broad.mit.edu	37	X	150908112	150908112	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150908112C>T	ENST00000329903.4	+	3	315	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	94					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCATTCCTCGAGCGTT	0.537000													17	0					0	0	0.000958	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233946	10233946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:10233946C>T	ENST00000315330.4	-	3	343	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.G61E	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	94					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGACGTATTTCCTAATCTTTC	0.423000													24	47					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179634970	179634970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179634970G>A	ENST00000589042.1	-	36	8682	c.8458C>T	c.(8458-8460)Cat>Tat	p.H2820Y	TTN_ENST00000360870.5_Missense_Mutation_p.H2820Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2774Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2774Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H2820Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2774Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2820Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2558							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTGTCATGGGAAACACTA	0.413000													66	50					0	0	0.003610	0	0
TMEM44	93109	broad.mit.edu	37	3	194349132	194349132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:194349132C>T	ENST00000392432.2	-	2	449	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	TMEM44_ENST00000381975.3_Missense_Mutation_p.A82T|TMEM44_ENST00000347147.4_Missense_Mutation_p.A82T|TMEM44_ENST00000473092.1_Missense_Mutation_p.A82T|TMEM44_ENST00000330115.3_5'UTR|TMEM44_ENST00000273580.7_Missense_Mutation_p.A82T	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	82						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		AGCTGTCTGGCCAGAAGAGCC	0.597000													4	10					0	0	0.001168	0	0
SEMG2	6407	broad.mit.edu	37	20	43851480	43851480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:43851480G>A	ENST00000372769.3	+	2	1297	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	403	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.383000													22	26					0	0	0.002299	0	0
EPPK1	83481	broad.mit.edu	37	8	144940451	144940451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144940451G>A	ENST00000525985.1	-	2	7042	c.6971C>T	c.(6970-6972)gCc>gTc	p.A2324V				P58107	EPIPL_HUMAN	epiplakin 1	2324						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCTGCATGGCCTGGAAGAG	0.697000													13	266					0	0	0.000566	0	0
PDGFC	56034	broad.mit.edu	37	4	157771501	157771501	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:157771501C>T	ENST00000502773.1	-	2	676	c.186G>A	c.(184-186)agG>agA	p.R62R	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Silent_p.R62R	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATGAGGAAACCTTGGGCTGT	0.368000													21	36					0	0	0.002299	0	0
MBTPS1	8720	broad.mit.edu	37	16	84100115	84100115	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:84100115A>G	ENST00000343411.3	-	17	2827	c.2332T>C	c.(2332-2334)Ttc>Ctc	p.F778L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	778					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCAGGGTGAACTCCCCTTCA	0.537000													13	16					0	0	0.004007	0	0
CORO2B	10391	broad.mit.edu	37	15	69006963	69006963	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:69006963C>T	ENST00000543950.1	+	7	1170	c.816C>T	c.(814-816)ttC>ttT	p.F272F	CORO2B_ENST00000540068.1_Silent_p.F272F|CORO2B_ENST00000261861.5_Silent_p.F272F|CORO2B_ENST00000566799.1_Silent_p.F277F	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	277					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGTTCCCCTTCTATGATGCTG	0.602000													50	74					0	0	0.003610	0	0
TPH2	121278	broad.mit.edu	37	12	72388322	72388322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:72388322G>A	ENST00000333850.3	+	8	1186	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	349					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCATCAGATGAAGATGTTCA	0.413000													29	36					0	0	0.001271	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296775	15296775	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:15296775G>A	ENST00000378116.4	-	4	528	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	174						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCCGAAGGGGAGCTGGCGG	0.522000													19	2					0	0	0.001523	0	0
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:72241933C>T	ENST00000357731.4	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	153	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388000													10	21					0	0	0.000673	0	0
ILDR1	286676	broad.mit.edu	37	3	121712360	121712360	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121712360G>A	ENST00000273691.3	-	6	1209	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	ILDR1_ENST00000462014.1_Silent_p.P380P|ILDR1_ENST00000393631.1_Silent_p.P323P|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Silent_p.P412P	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	412						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACCAGTGTATGGGTGACCCAT	0.607000													13	16					0	0	0.001368	0	0
OR51B4	79339	broad.mit.edu	37	11	5322770	5322770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:5322770G>A	ENST00000380224.1	-	1	456	c.407C>T	c.(406-408)tCc>tTc	p.S136F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACTCGGGAATTGGTAAG	0.448000													111	6					0	0	0.003610	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966957	7966957	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7966957C>T	ENST00000543909.1	-	16	2277	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	SLC2A14_ENST00000396589.2_Silent_p.G506G|SLC2A14_ENST00000539924.1_Silent_p.G521G|SLC2A14_ENST00000340749.5_Silent_p.G483G|SLC2A14_ENST00000431042.2_Silent_p.G483G|SLC2A14_ENST00000542546.1_Silent_p.G397G|SLC2A14_ENST00000535295.1_Silent_p.G397G|SLC2A14_ENST00000542505.1_Silent_p.G147G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	506			G -> E (in dbSNP:rs10845981).		cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCTGTTCATCCCCATGACGC	0.572000													19	77					0	0	0.003755	0	0
CNTN3	5067	broad.mit.edu	37	3	74334516	74334516	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:74334516A>G	ENST00000263665.6	-	19	2671	c.2644T>C	c.(2644-2646)Tac>Cac	p.Y882H		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	882	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCACTGTTGTAAGCCCGGACA	0.488000													56	98					0	0	0.003610	0	0
RNF111	54778	broad.mit.edu	37	15	59359153	59359153	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:59359153C>T	ENST00000348370.4	+	6	1990	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	RNF111_ENST00000557998.1_Silent_p.H519H|RNF111_ENST00000559209.1_Silent_p.H519H|RNF111_ENST00000434298.1_Silent_p.H519H|RNF111_ENST00000561186.1_Silent_p.H519H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	519	His-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCACCACCACCATACTCCCC	0.498000													25	45					0	0	0.000878	0	0
RELN	5649	broad.mit.edu	37	7	103191669	103191669	+	Silent	SNP	C	C	T	rs116750302	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:103191669C>T	ENST00000424685.2	-	41	6306	c.6147G>A	c.(6145-6147)gcG>gcA	p.A2049A	RELN_ENST00000343529.5_Silent_p.A2049A|RELN_ENST00000428762.1_Silent_p.A2049A			P78509	RELN_HUMAN	reelin	2049					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAGGTCGCCCCGAAGT	0.547000													33	16					0	0	0.001706	0	0
MYH13	8735	broad.mit.edu	37	17	10224953	10224953	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10224953G>A	ENST00000418404.3	-	23	3170	c.3007C>T	c.(3007-3009)Cta>Tta	p.L1003L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1003L|MYH13_ENST00000570743.1_Silent_p.L1003L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1003					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTCCTGTAGAGATTTCTTT	0.368000													47	39					0	0	0.002852	0	0
SPTA1	6708	broad.mit.edu	37	1	158609797	158609797	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:158609797C>T	ENST00000368148.3	-	34	4918	c.4737_splice	c.e34-1	p.E1580_splice	SPTA1_ENST00000368147.3_Splice_Site_p.E1580_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1580					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCAGTTGCTCCTAACCCAAG	0.473000													40	85					0	0	0.001485	0	0
XRN1	54464	broad.mit.edu	37	3	142090133	142090133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:142090133G>A	ENST00000264951.4	-	26	3133	c.3016C>T	c.(3016-3018)Caa>Taa	p.Q1006*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.Q1006*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1006					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACATCCTCTTGGCTATTTTTG	0.313000													21	34					0	0	0.003330	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196579	74196579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:74196579G>A	ENST00000286523.5	-	4	2641	c.1859C>T	c.(1858-1860)gCc>gTc	p.A620V	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.A620V	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GACGGGAGGGGCGATGAAAGT	0.632000													20	3					0	0	0.002780	0	0
PGK2	5232	broad.mit.edu	37	6	49754589	49754589	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:49754589C>T	ENST00000304801.3	-	1	464	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	104					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGCTTTCTCCACTTCTGCGC	0.527000													47	53					0	0	0.003610	0	0
SYTL5	94122	broad.mit.edu	37	X	37979702	37979702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:37979702C>T	ENST00000357972.5	+	14	2234	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	SYTL5_ENST00000297875.2_Missense_Mutation_p.P563L|SYTL5_ENST00000456733.2_Missense_Mutation_p.P585L|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	563					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTGATGCTTCCACCAGAACAA	0.433000													54	9					0	0	0.003610	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306320	239306320	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:239306320G>A	ENST00000373327.4	+	16	2132	c.1910_splice	c.e16+1	p.R637_splice	TRAF3IP1_ENST00000391993.3_Splice_Site_p.R571_splice|TRAF3IP1_ENST00000391994.2_Splice_Site_p.R637_splice	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	637	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAGGAGCAGAGGTGGGGGGTA	0.637000													19	17					0	0	0.001216	0	0
TREM1	54210	broad.mit.edu	37	6	41248754	41248754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:41248754C>T	ENST00000591620.1	-	3	570	c.544G>A	c.(544-546)Gat>Aat	p.D182N	TREM1_ENST00000334475.6_Intron|TREM1_ENST00000244709.4_Missense_Mutation_p.D182N|TREM1_ENST00000589614.1_Missense_Mutation_p.D182N	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	182					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	GTGGAGACATCGGCAGTTGAC	0.512000													23	33					0	0	0.002780	0	0
STAT4	6775	broad.mit.edu	37	2	191931173	191931173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:191931173G>A	ENST00000392320.2	-	7	927	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	STAT4_ENST00000358470.4_Missense_Mutation_p.L205F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	205					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGAAATCGAGGCTGTTAAGC	0.358000													18	14					0	0	0.001523	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:100169975G>A	ENST00000524871.1	+	20	2757	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_ENST00000418526.2_Missense_Mutation_p.E749K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E823K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E823K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E823K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000													43	3					0	0	0.001951	0	0
PRDM9	56979	broad.mit.edu	37	5	23509604	23509604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:23509604C>T	ENST00000296682.3	+	3	277	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGACATTTCCATATACTTC	0.413000										HNSCC(3;0.000094)			68	183					0	0	0.003610	0	0
CCDC132	55610	broad.mit.edu	37	7	92905653	92905653	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:92905653C>T	ENST00000251739.5	+	12	1106	c.978C>T	c.(976-978)ctC>ctT	p.L326L	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Intron|CCDC132_ENST00000305866.5_Intron|CCDC132_ENST00000541136.1_Intron|CCDC132_ENST00000317751.6_Intron	NM_024553.2	NP_078829.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATATCTCTCCTTTAGATTT	0.284000													16	17					0	0	0.004007	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488747	84488747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:84488747G>A	ENST00000286744.5	+	6	772	c.548G>A	c.(547-549)gGa>gAa	p.G183E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G183E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	183						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTACTGGATGGAACTCGTTGC	0.532000													18	25					0	0	0.000743	0	0
SSTR3	6753	broad.mit.edu	37	22	37602744	37602744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:37602744C>T	ENST00000328544.3	-	2	1632	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	SSTR3_ENST00000402501.1_Missense_Mutation_p.G367R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	367					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ATCTCCTTCCCCTTGCCCCCC	0.692000													14	13					0	0	0.001855	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525475	38525475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:38525475G>A	ENST00000332509.3	-	8	1355	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PLA2G6_ENST00000335539.3_Missense_Mutation_p.S391F|PLA2G6_ENST00000402064.1_Missense_Mutation_p.S391F	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	391					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCCGATTTTGGAGGCTAGGAA	0.567000													23	31					0	0	0.003330	0	0
IGSF10	285313	broad.mit.edu	37	3	151165605	151165605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:151165605G>A	ENST00000282466.3	-	4	2163	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	722					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTAATTCCCGATAGTTGTGC	0.493000													24	27					0	0	0.000721	0	0
DSCAM	1826	broad.mit.edu	37	21	41711242	41711242	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:41711242C>T	ENST00000400454.1	-	7	1788	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	437	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCACGTGATCGTGGGCAAAG	0.532000													23	1					0	0	0.002299	0	0
CLMP	79827	broad.mit.edu	37	11	122955333	122955333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:122955333C>T	ENST00000448775.2	-	3	615	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	92	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GGAGGCATCTCCTGCCAGGAA	0.512000													49	2					0	0	0.003610	0	0
MYO1G	64005	broad.mit.edu	37	7	45016598	45016598	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:45016598G>A	ENST00000258787.7	-	2	304	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	56	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCCCATACAGGGGCAGCTCCT	0.622000													31	23					0	0	0.004289	0	0
CNTN4	152330	broad.mit.edu	37	3	2967440	2967440	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:2967440G>A	ENST00000397461.1	+	12	1719	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000418658.1_Silent_p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343000													48	52					0	0	0.003610	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627421	41627421	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:41627421C>T	ENST00000331105.2	+	5	615	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	181					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTATCTGTTCCGTGCTCTTCG	0.542000													77	86					0	0	0.003610	0	0
FAM86C1	55199	broad.mit.edu	37	11	71502807	71502807	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:71502807T>G	ENST00000426628.2	+	3	201	c.182T>G	c.(181-183)gTg>gGg	p.V61G	FAM86C1_ENST00000528685.1_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron	NM_001099653.1	NP_001093123.1	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	58										lung(1)	1						CCTGTGTGTGTGAAGCACCCG	0.532000													32	2					0	0	0.003755	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711294	40711294	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:40711294C>A	ENST00000454349.2	+	20	4897	c.4686C>A	c.(4684-4686)ttC>ttA	p.F1562L	TNRC6B_ENST00000301923.9_Missense_Mutation_p.F758L|TNRC6B_ENST00000335727.8_Missense_Mutation_p.F1452L|TNRC6B_ENST00000402203.1_Missense_Mutation_p.F758L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1562					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CAGCAAAGTTCCCTGATTACA	0.383000													19	23					7.41877e-09	2.77271e-08	0.001882	1	0
NUF2	83540	broad.mit.edu	37	1	163307861	163307861	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:163307861T>A	ENST00000271452.3	+	7	766	c.487T>A	c.(487-489)Tta>Ata	p.L163I	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Missense_Mutation_p.L163I|NUF2_ENST00000524800.1_Missense_Mutation_p.L163I	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	163	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CCAGGAGGCATTAATGAAACT	0.338000													29	32					0	0	0.002445	0	0
MGST1	4257	broad.mit.edu	37	12	16510602	16510602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:16510602C>T	ENST00000535309.1	+	3	229	c.190C>T	c.(190-192)Cga>Tga	p.R64*	MGST1_ENST00000396207.1_Nonsense_Mutation_p.R64*|MGST1_ENST00000396210.3_Nonsense_Mutation_p.R64*|MGST1_ENST00000010404.2_Nonsense_Mutation_p.R64*|MGST1_ENST00000540056.1_Intron|MGST1_ENST00000396209.1_Nonsense_Mutation_p.R64*	NM_001267598.1	NP_001254527.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	64					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAAGTATCTTCGAACAGATGA	0.358000													7	15					0	0	0.003080	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67478594	67478594	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67478594G>A	ENST00000290949.3	-	3	468	c.318C>T	c.(316-318)atC>atT	p.I106I	ATP6V0D1_ENST00000540149.1_Silent_p.I147I|ATP6V0D1_ENST00000602876.1_Silent_p.I29I	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	106					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCACGTTGTCGATCATGTAAC	0.612000													5	8					0	0	0.000602	0	0
SF3B2	10992	broad.mit.edu	37	11	65826342	65826342	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:65826342C>T	ENST00000528302.1	+	9	1011	c.957C>T	c.(955-957)ccC>ccT	p.P319P	SF3B2_ENST00000322535.6_Silent_p.P336P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572000													14	23					0	0	0.003163	0	0
TESK2	10420	broad.mit.edu	37	1	45923403	45923403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:45923403G>A	ENST00000372086.3	-	2	455	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000451835.2_Missense_Mutation_p.L19F|TESK2_ENST00000372084.1_Missense_Mutation_p.L19F|TESK2_ENST00000341771.6_Missense_Mutation_p.L19F	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	19					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AACTCTTCAAGACGCTCCACA	0.448000													37	46					0	0	0.002222	0	0
ABCB11	8647	broad.mit.edu	37	2	169792881	169792881	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:169792881G>A	ENST00000263817.6	-	22	2797	c.2673C>T	c.(2671-2673)atC>atT	p.I891I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	891	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAAGGCAATGATCATGGCCA	0.502000													33	53					0	0	0.000954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37447441	37447441	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:37447441G>A	ENST00000374660.1	+	15	1758		c.e15-1		ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000602533.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCCATTTAGGCTACCTGCG	0.284000													61	13					0	0	0.003610	0	0
FOXK2	3607	broad.mit.edu	37	17	80540626	80540626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:80540626C>T	ENST00000335255.5	+	5	1093	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	307	DNA-binding; major groove.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GAATTCAATTCGCCACAATCT	0.388000													14	22					0	0	0.002450	0	0
PTPRD	5789	broad.mit.edu	37	9	8341932	8341932	+	Silent	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:8341932A>G	ENST00000381196.4	-	37	5251	c.4708T>C	c.(4708-4710)Tta>Cta	p.L1570L	PTPRD_ENST00000397617.3_Silent_p.L1163L|PTPRD_ENST00000360074.4_Silent_p.L1557L|PTPRD_ENST00000486161.1_Silent_p.L1163L|PTPRD_ENST00000356435.5_Silent_p.L1570L|PTPRD_ENST00000397606.3_Silent_p.L1163L|PTPRD_ENST00000540109.1_Silent_p.L1570L|PTPRD_ENST00000358503.5_Silent_p.L1548L|PTPRD_ENST00000355233.5_Silent_p.L1164L|PTPRD_ENST00000397611.3_Silent_p.L1160L|PTPRD_ENST00000537002.1_Silent_p.L1160L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1570	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTCTTTCTAACATGGCATCT	0.378000										TSP Lung(15;0.13)			24	2					0	0	0.002780	0	0
PLGLA	285189	broad.mit.edu	37	2	107007411	107007411	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:107007411G>A	ENST00000484422.1	+	0	260																											ACAGAGGGACGATGTCCAAAA	0.448000													18	20					0	0	0.002780	0	0
VPS13D	55187	broad.mit.edu	37	1	12566992	12566992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:12566992G>A	ENST00000358136.3	+	69	13010	c.12880G>A	c.(12880-12882)Gat>Aat	p.D4294N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D4269N|VPS13D_ENST00000543766.1_Missense_Mutation_p.D292N|VPS13D_ENST00000543710.1_Missense_Mutation_p.D98N|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4293					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)		AGACTACGTGGATCGAGAAGC	0.488000													31	34					0	0	0.001512	0	0
ZNF112	7665	broad.mit.edu	37	19	44833297	44833297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:44833297G>A	ENST00000354340.4	-	4	1064	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	ZNF112_ENST00000337401.4_Missense_Mutation_p.S344F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S361F	NM_013380.3	NP_037512.3			zinc finger protein 112																		GTTAAGAGGGGAACAGTGATT	0.383000													19	25					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179605752	179605752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179605752C>T	ENST00000589042.1	-	48	12432	c.12208G>A	c.(12208-12210)Gaa>Aaa	p.E4070K	TTN_ENST00000342175.6_Missense_Mutation_p.E3899K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3707K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3832K|TTN_ENST00000591111.1_Missense_Mutation_p.E3753K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3753							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCAATTTCCTGCTCTGAG	0.428000													71	106					0	0	0.003610	0	0
CD72	971	broad.mit.edu	37	9	35610665	35610665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:35610665G>A	ENST00000396757.1	-	9	1200	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CD72_ENST00000259633.4_Missense_Mutation_p.L346F|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	346	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTAGGGAAGAGAACTTCTA	0.448000													24	2					0	0	0.002299	0	0
GFRAL	389400	broad.mit.edu	37	6	55192369	55192369	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:55192369T>G	ENST00000340465.2	+	1	103	c.17T>G	c.(16-18)tTc>tGc	p.F6C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	6						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTTTATTTTCTTGGGTAAG	0.368000													41	51					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189875410	189875410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:189875410C>T	ENST00000304636.3	+	50	4218	c.4048C>T	c.(4048-4050)Ctt>Ttt	p.L1350F	COL3A1_ENST00000317840.5_Missense_Mutation_p.L1047F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1350	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGAAGATGTCCTTGATGTGCA	0.438000													46	51					0	0	0.003610	0	0
AUTS2	26053	broad.mit.edu	37	7	69364456	69364456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:69364456G>A	ENST00000342771.4	+	2	815	c.494G>A	c.(493-495)aGa>aAa	p.R165K	AUTS2_ENST00000406775.2_Missense_Mutation_p.R165K|AUTS2_ENST00000403018.2_Missense_Mutation_p.R165K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	165										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTTGGGAAGAGAAAGAAAATG	0.517000													64	38					0	0	0.003610	0	0
YIPF1	54432	broad.mit.edu	37	1	54344369	54344369	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:54344369G>A	ENST00000072644.1	-	5	558	c.222C>T	c.(220-222)tcC>tcT	p.S74S	YIPF1_ENST00000539954.1_Silent_p.S99S|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TCCAGAAGGGGGAGCTTTTCT	0.408000													16	39					0	0	0.000566	0	0
TRAP1	10131	broad.mit.edu	37	16	3714414	3714414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:3714414G>A	ENST00000575671.1	-	8	1532	c.803C>T	c.(802-804)tCc>tTc	p.S268F	TRAP1_ENST00000538171.1_Missense_Mutation_p.S424F|TRAP1_ENST00000246957.5_Missense_Mutation_p.S477F|DNASE1_ENST00000575152.1_3'UTR			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	477					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TAGCTGCCCGGAGGGCAGCGC	0.632000													7	16					0	0	0.003080	0	0
CD200R1	131450	broad.mit.edu	37	3	112647745	112647745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:112647745C>T	ENST00000471858.1	-	4	850	c.618G>A	c.(616-618)tgG>tgA	p.W206*	CD200R1_ENST00000295863.4_Nonsense_Mutation_p.W184*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.W229*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	206	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTGGACCTCCCAGTGGCATG	0.498000													20	22					0	0	0.003330	0	0
ZNF208	7757	broad.mit.edu	37	19	22156318	22156318	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:22156318G>A	ENST00000397126.4	-	4	1666	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGACCAGTTGAAAGCTTTGC	0.388000													10	36					0	0	0.001855	0	0
BCAS3	54828	broad.mit.edu	37	17	59152286	59152286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:59152286C>T	ENST00000589222.1	+	20	2103	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	BCAS3_ENST00000407086.3_Missense_Mutation_p.P679S|BCAS3_ENST00000588462.1_Missense_Mutation_p.P694S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P679S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P694S|BCAS3_ENST00000588874.1_Missense_Mutation_p.P450S|BCAS3_ENST00000585744.1_Missense_Mutation_p.P465S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	694						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TATAGTGGTTCCCCCTGGAAG	0.428000													38	58					0	0	0.000954	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	52					0	0	0.001168	0	0
HTR7	3363	broad.mit.edu	37	10	92508762	92508762	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:92508762A>T	ENST00000371721.3	-	2	1371	c.1129T>A	c.(1129-1131)Tct>Act	p.S377T	HTR7_ENST00000277874.6_Missense_Mutation_p.S377T|HTR7_ENST00000371719.2_Missense_Mutation_p.S377T|HTR7_ENST00000336152.3_Missense_Mutation_p.S377T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	377					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TTAATGAGAGAGTTTGCATAG	0.527000													69	7					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38751082	38751082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:38751082C>T	ENST00000449082.2	-	24	4167	c.4168G>A	c.(4168-4170)Gac>Aac	p.D1390N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1390					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TACACGTTGTCCTCCCACTTG	0.448000													16	19					0	0	0.000743	0	0
HIPK1	204851	broad.mit.edu	37	1	114515766	114515766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:114515766C>T	ENST00000369558.1	+	16	3497	c.3265C>T	c.(3265-3267)Ccg>Tcg	p.P1089S	HIPK1_ENST00000340480.4_Missense_Mutation_p.P715S|HIPK1_ENST00000426820.2_Missense_Mutation_p.P1089S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P695S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P695S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P1044S|HIPK1_ENST00000369555.2_Missense_Mutation_p.P1044S|HIPK1_ENST00000369561.4_Missense_Mutation_p.P1055S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1089	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATGGCAGCCCGCTACACTC	0.647000													31	43					0	0	0.002836	0	0
FGD2	221472	broad.mit.edu	37	6	36981496	36981496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:36981496G>A	ENST00000274963.8	+	5	810	c.639G>A	c.(637-639)tgG>tgA	p.W213*		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	213	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGGCCACCTGGACCGACAAGT	0.597000													9	18					0	0	0.000443	0	0
OR6B3	150681	broad.mit.edu	37	2	240984753	240984753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:240984753G>A	ENST00000319423.4	-	1	736	c.737C>T	c.(736-738)aCc>aTc	p.T246I		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGTGACCACGGTGAGGTGAGA	0.577000													28	34					0	0	0.000721	0	0
MYH6	4624	broad.mit.edu	37	14	23857130	23857130	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:23857130G>A	ENST00000405093.3	-	31	4432	c.4362C>T	c.(4360-4362)atC>atT	p.I1454I	MYH6_ENST00000356287.3_Silent_p.I1454I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1454					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCGGCCAGGATCTGCCCGG	0.627000													13	1					0	0	0.002450	0	0
PRB2	653247	broad.mit.edu	37	12	11546165	11546165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:11546165G>A	ENST00000389362.4	-	3	882	c.847C>T	c.(847-849)Cca>Tca	p.P283S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.612000													73	115					0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76022865	76022865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:76022865C>T	ENST00000393004.2	-	5	2904	c.2683G>A	c.(2683-2685)Ggg>Agg	p.G895R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.G895R|FILIP1_ENST00000370020.1_Missense_Mutation_p.G796R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	895										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGTGCCCTGGACTGGAA	0.532000													39	60					0	0	0.001287	0	0
OTOGL	283310	broad.mit.edu	37	12	80749695	80749695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:80749695G>A	ENST00000458043.2	+	46	5752	c.5746G>A	c.(5746-5748)Gat>Aat	p.D1916N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1904N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGGCATCATTGATAAATGGAC	0.398000													108	124					0	0	0.003610	0	0
RARRES2	5919	broad.mit.edu	37	7	150037221	150037221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:150037221T>A	ENST00000466675.1	-	2	1280	c.247A>T	c.(247-249)Aag>Tag	p.K83*	RARRES2_ENST00000482669.1_Nonsense_Mutation_p.K83*|RARRES2_ENST00000223271.3_Nonsense_Mutation_p.K83*			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	83					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGGGTTTCTTCCAGTCCCTC	0.572000													373	220					0	0	0.003610	0	0
KRT7	3855	broad.mit.edu	37	12	52642524	52642524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:52642524C>T	ENST00000331817.5	+	9	1573	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	464	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		ATCCGCCAGTCGCAGGAGTGC	0.647000													9	18					0	0	0.000443	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839966	122839966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:122839966C>T	ENST00000194130.2	-	1	74	c.35G>A	c.(34-36)cGa>cAa	p.R12Q		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	12						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAAGAGAAATCGGCGATAAAC	0.438000													31	51					0	0	0.004289	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													5	55					0	0	0.001168	0	0
GSAP	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	G	A	rs138204887	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:77006657G>A	ENST00000257626.7	-	9	705	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GAGCCCAAACGAAATCCTCAG	0.303000													77	191					0	0	0.003610	0	0
USP17L2	377630	broad.mit.edu	37	8	11994741	11994741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:11994741C>T	ENST00000333796.3	-	1	1845	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	510					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCTGGTCCTCCCTTGCAGAGA	0.552000													28	63					0	0	0.001786	0	0
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:102661492C>T	ENST00000315274.6	-	9	1309	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	414	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CATGTGCTATCATTTTGGGAT	0.383000													99	5					0	0	0.003610	0	0
PARM1	25849	broad.mit.edu	37	4	75938092	75938092	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:75938092G>A	ENST00000307428.7	+	2	713	c.501G>A	c.(499-501)gaG>gaA	p.E167E	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	167					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACCACCTGAGGTCTTTTCTG	0.582000													99	117					0	0	0.003610	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165543	134165543	+	Silent	SNP	T	T	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:134165543T>G	ENST00000372264.3	+	1	463	c.159T>G	c.(157-159)ggT>ggG	p.G53G	PPAPDC3_ENST00000372261.1_Silent_p.G53G	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	53						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CACCTGCTGGTGACGGGGCCA	0.677000													7	7					0	0	0.001984	0	0
FCGBP	8857	broad.mit.edu	37	19	40364063	40364063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40364063C>T	ENST00000221347.6	-	31	14586	c.14579G>A	c.(14578-14580)gGg>gAg	p.G4860E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4860	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGATGCCCCCGTTGGCCAG	0.642000													20	16					0	0	0.001882	0	0
IGLL1	3543	broad.mit.edu	37	22	23915600	23915600	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:23915600G>A	ENST00000330377.2	-	3	612	c.495C>T	c.(493-495)ccC>ccT	p.P165P	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TCTGTTTGGAGGGCGTGGTCA	0.587000													60	46					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196651833	196651833	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:196651833C>T	ENST00000312428.6	-	58	10879	c.10779G>A	c.(10777-10779)cgG>cgA	p.R3593R	DNAH7_ENST00000409063.1_Silent_p.R76R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3593	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCAAATTTCCGTCTTTCTT	0.413000													26	38					0	0	0.000878	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927880	13927880	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:13927880G>A	ENST00000602743.1	-	0	224																											TTCAGGAACGGAGGGAGTGAG	0.557000													18	25					0	0	0.001523	0	0
GDF3	9573	broad.mit.edu	37	12	7848166	7848166	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7848166T>G	ENST00000329913.3	-	1	206	c.159A>C	c.(157-159)aaA>aaC	p.K53N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	53					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGGAAAATTTTCTTCAAGA	0.502000													23	24					0	0	0.002299	0	0
KCTD19	146212	broad.mit.edu	37	16	67333465	67333465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67333465G>A	ENST00000304372.5	-	6	842	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAGGTGGTCGGGGAACAGCCA	0.632000													35	36					0	0	0.003271	0	0
KIAA1524	57650	broad.mit.edu	37	3	108279545	108279545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:108279545G>A	ENST00000295746.8	-	14	1854	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	KIAA1524_ENST00000491772.1_Missense_Mutation_p.P434L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	593						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTCAATCCAGGAACACCATC	0.343000													67	86					0	0	0.003610	0	0
PCED1A	64773	broad.mit.edu	37	20	2816132	2816132	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:2816132G>A	ENST00000360652.2	-	8	1843	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	PCED1A_ENST00000356872.3_Silent_p.A396A	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TCCCCGAATGGGCAGGAGGCC	0.627000													12	26					0	0	0.001368	0	0
C10orf71	118461	broad.mit.edu	37	10	50531036	50531036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:50531036C>T	ENST00000374144.3	+	3	734	c.446C>T	c.(445-447)tCt>tTt	p.S149F	C10orf71_ENST00000323868.4_Missense_Mutation_p.S149F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	149										endometrium(1)	1						CTAATTAAATCTTTCGACAGG	0.537000													25	2					0	0	0.002780	0	0
OR2M3	127062	broad.mit.edu	37	1	248366576	248366576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248366576G>A	ENST00000456743.1	+	1	245	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCCCTCATGGACCTCATGC	0.532000													98	237					0	0	0.003610	0	0
ZNF184	7738	broad.mit.edu	37	6	27419892	27419892	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:27419892G>A	ENST00000211936.6	-	6	1730	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	ZNF184_ENST00000377419.1_Silent_p.A482A	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAACTGAAGGCCTTTCCAC	0.403000													21	34					0	0	0.002780	0	0
KCNB2	9312	broad.mit.edu	37	8	73849983	73849983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:73849983C>T	ENST00000523207.1	+	3	2981	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	798					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTTCTCTTCAAGAGAGAGG	0.552000													15	29					0	0	0.000566	0	0
ZNF616	90317	broad.mit.edu	37	19	52619037	52619037	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:52619037G>A	ENST00000600228.1	-	4	1641	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTTTCTCGCCGGTATGAATTC	0.388000													29	64					0	0	0.001512	0	0
CGNL1	84952	broad.mit.edu	37	15	57744419	57744419	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:57744419G>A	ENST00000281282.5	+	6	2064	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	662						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACGAAAAGGTGGAGGAGAACT	0.483000													15	25					0	0	0.003163	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886063	70886063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:70886063G>A	ENST00000333538.5	+	5	1568	c.934G>A	c.(934-936)Gac>Aac	p.D312N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	312						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGACTGGTGGGACGCCGGAGA	0.592000													26	49					0	0	0.001061	0	0
ASTN2	23245	broad.mit.edu	37	9	119625875	119625875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:119625875G>A	ENST00000313400.4	-	11	2127	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S625F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S672F			O75129	ASTN2_HUMAN	astrotactin 2	676	EGF-like 2.					integral to membrane		p.S625Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACATCCCGAGGAATCCACCTG	0.607000													24	33					0	0	0.000721	0	0
HYDIN	54768	broad.mit.edu	37	16	70972627	70972627	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70972627C>T	ENST00000393567.2	-	44	7035	c.6885G>A	c.(6883-6885)gaG>gaA	p.E2295E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2295										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACGCTCCTTCTCTTTCTCAA	0.542000													16	18					0	0	0.000743	0	0
ADCY9	115	broad.mit.edu	37	16	4027616	4027616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:4027616C>T	ENST00000294016.3	-	9	3233	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	899					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCGGCCGAGCCTGTGAACACT	0.652000													8	28					0	0	0.000274	0	0
LILRB2	10288	broad.mit.edu	37	19	54779825	54779825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54779825C>T	ENST00000391748.1	-	13	1754	c.1627G>A	c.(1627-1629)Ggg>Agg	p.G543R	LILRB2_ENST00000391749.4_Missense_Mutation_p.G544R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.G543R|LILRB2_ENST00000434421.1_Missense_Mutation_p.G428R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	544					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTCCACCCCATCTTCAGGC	0.617000													69	67					0	0	0.003610	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165160	87165160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:87165160C>T	ENST00000285393.3	+	8	1149	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	336					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GAATGTATTTCACAGAGGCAT	0.333000													25	32					0	0	0.002780	0	0
ACP2	53	broad.mit.edu	37	11	47269227	47269227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:47269227G>A	ENST00000256997.3	-	3	378	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	ACP2_ENST00000530453.1_Missense_Mutation_p.H88Y|ACP2_ENST00000529788.1_Missense_Mutation_p.H88Y|ACP2_ENST00000444355.2_Missense_Mutation_p.H88Y|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000527256.1_Missense_Mutation_p.H56Y|ACP2_ENST00000533929.1_Missense_Mutation_p.H60Y|ACP2_ENST00000529444.1_Missense_Mutation_p.H88Y	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	88						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						AGGAAGCCGTGATAGCGCTGC	0.587000													50	4					0	0	0.003610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049425	36049425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:36049425C>T	ENST00000282507.3	-	4	510	c.409G>A	c.(409-411)Gag>Aag	p.E137K	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E103K|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	137						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGAAGTTCTCATTCTTTAAG	0.363000													62	31					0	0	0.003610	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:24259437C>T	ENST00000538205.1	+	13	1462	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.F384F|ADAMDEC1_ENST00000522298.1_Silent_p.F305F|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000													22	32					0	0	0.000721	0	0
OSMR	9180	broad.mit.edu	37	5	38886151	38886151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:38886151G>A	ENST00000274276.3	+	7	1252	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	OSMR_ENST00000502536.1_Missense_Mutation_p.E284K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	284					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTTTCTGGGGAAAAGAAACT	0.338000													19	41					0	0	0.001216	0	0
JARID2	3720	broad.mit.edu	37	6	15511561	15511561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:15511561G>A	ENST00000341776.2	+	13	3125	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	JARID2_ENST00000397311.3_Missense_Mutation_p.E789K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	961	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAACAAGCTGGAAGATGTGGT	0.572000													34	58					0	0	0.004289	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743947	20743947	+	Silent	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:20743947A>G	ENST00000427390.2	-	3	435	c.345T>C	c.(343-345)caT>caC	p.H115H		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	115										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CCTGATGTTGATGGCTTGCCT	0.512000													3	13					0	0	0.000248	0	0
DNAJC18	202052	broad.mit.edu	37	5	138773084	138773084	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:138773084C>T	ENST00000302060.5	-	2	284	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	68					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGCTGTTCCTCACTATACG	0.473000													19	1					0	0	0.000958	0	0
DCC	1630	broad.mit.edu	37	18	50994285	50994285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:50994285G>A	ENST00000442544.2	+	25	4257	c.3641G>A	c.(3640-3642)gGg>gAg	p.G1214E	DCC_ENST00000581580.1_Missense_Mutation_p.G849E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1214					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGGAAGCAGGGAGCTCTATG	0.522000													29	7					0	0	0.002445	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858525	43858525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:43858525C>T	ENST00000389420.3	-	10	1377	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G460R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	460	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGACATTCCCCGTAACCAGTA	0.358000													27	22					0	0	0.000878	0	0
SLFN5	162394	broad.mit.edu	37	17	33592123	33592123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:33592123C>T	ENST00000299977.4	+	5	2040	c.1892C>T	c.(1891-1893)aCc>aTc	p.T631I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	631					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CAGCCAGTGACCCGGAAAACC	0.418000													26	43					0	0	0.000721	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:31323206G>A	ENST00000265071.2	+	12	2429	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000													14	41					0	0	0.002450	0	0
SPEN	23013	broad.mit.edu	37	1	16255330	16255330	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:16255330G>A	ENST00000375759.3	+	11	2799	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	865					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGACAAAGAGGGAATAGCGA	0.468000													35	45					0	0	0.003271	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941960	120941960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:120941960C>T	ENST00000273666.6	+	11	1338	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P356L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P356L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P356L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P356L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	356					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATGGATCATCCTATTGTTGAA	0.328000													36	42					0	0	0.001111	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	G	A	rs140332483		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:55846490G>A	ENST00000322678.1	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000													46	73					0	0	0.003610	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618713	37618713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:37618713C>T	ENST00000399151.3	+	19	4520	c.4435C>T	c.(4435-4437)Cag>Tag	p.Q1479*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1479					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGAACTTCCAGCAGGCCAT	0.662000													9	1					0	0	0.000274	0	0
SEC16B	89866	broad.mit.edu	37	1	177927977	177927977	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:177927977C>A	ENST00000308284.6	-	9	1221	c.1132G>T	c.(1132-1134)Ggg>Tgg	p.G378W	SEC16B_ENST00000464631.1_Missense_Mutation_p.G379W|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	378					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAACTTACCCCATTCTGGCGA	0.458000													11	16					3.27435e-08	1.22149e-07	0.002450	1	0
OR11G2	390439	broad.mit.edu	37	14	20666407	20666407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20666407G>A	ENST00000357366.3	+	1	913	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		atctaagaatgaagctggaaa	0.453000													54	8					0	0	0.003610	0	0
IFT140	9742	broad.mit.edu	37	16	1634239	1634239	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:1634239G>A	ENST00000426508.2	-	11	1701	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	446										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACACTCCACTGATGTGCATGT	0.627000													19	11					0	0	0.001523	0	0
KIF21A	55605	broad.mit.edu	37	12	39726502	39726502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:39726502G>A	ENST00000395670.3	-	20	3166	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	KIF21A_ENST00000541463.2_Missense_Mutation_p.S880F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S903F|KIF21A_ENST00000361418.5_Missense_Mutation_p.S916F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S903F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	916					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGCTGTCTTGGAAATAAACAC	0.408000													28	31					0	0	0.001271	0	0
RBMY1A1	5940	broad.mit.edu	37	Y	23702640	23702640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrY:23702640C>T	ENST00000382707.2	+	4	522	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	RBMY1A1_ENST00000303902.5_Missense_Mutation_p.P124S|RBMY1A1_ENST00000439108.2_5'UTR	NM_005058.2	NP_005049.1			RNA binding motif protein, Y-linked, family 1, member A1											lung(3)	3						AGGGTGGCTTCCCTCACATGA	0.433000													19	75					0	0	0.003954	0	0
CFHR5	81494	broad.mit.edu	37	1	196952084	196952084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:196952084C>T	ENST00000367414.5	+	2	256	c.200C>T	c.(199-201)tCc>tTc	p.S67F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S43F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACCCTTTTTCCCAAGTTCCT	0.348000													24	78					0	0	0.000721	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876460	120876460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:120876460C>T	ENST00000273666.6	+	9	1134	c.863C>T	c.(862-864)aCc>aTc	p.T288I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.T288I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T288I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T288I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T288I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	288					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTTTCCAGACCACAATTCCA	0.418000													19	26					0	0	0.001523	0	0
MYT1	4661	broad.mit.edu	37	20	62830252	62830252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:62830252G>A	ENST00000536311.1	+	3	402	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	MYT1_ENST00000328439.1_Missense_Mutation_p.R13Q|MYT1_ENST00000360149.4_Missense_Mutation_p.R13Q			Q01538	MYT1_HUMAN	myelin transcription factor 1	13					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTCGCACCCGATCCAAGGCC	0.562000													17	32					0	0	0.000566	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958112	119958112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:119958112G>A	ENST00000543831.1	+	2	319	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E24K|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	24					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CCTGTTGGTGGAAGAGAAGGA	0.517000													37	43					0	0	0.000954	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795658	149795658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:149795658C>T	ENST00000389942.5	-	2	269	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.E8K|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.E8K|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.E8K|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.E8K			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	8						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGGAAGAATTCCATCTTGCTG	0.622000													7	7					0	0	0.000274	0	0
CCR3	1232	broad.mit.edu	37	3	46307124	46307124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:46307124G>A	ENST00000357422.2	+	4	1018	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	CCR3_ENST00000395942.2_Missense_Mutation_p.G159S|CCR3_ENST00000541018.1_Missense_Mutation_p.G159S|CCR3_ENST00000545097.1_Missense_Mutation_p.G180S|CCR3_ENST00000395940.2_Missense_Mutation_p.G159S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	159					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGTCACCTGGGGCCTGGCAGT	0.507000													30	37					0	0	0.002445	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077424	79077424	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:79077424C>T	ENST00000321300.6	+	8	858	c.765C>T	c.(763-765)ccC>ccT	p.P255P	BAIAP2_ENST00000575712.1_Silent_p.P255P|BAIAP2_ENST00000392411.3_Silent_p.P177P|BAIAP2_ENST00000575245.1_Silent_p.P288P|BAIAP2_ENST00000321280.7_Silent_p.P255P|BAIAP2_ENST00000435091.3_Silent_p.P255P|BAIAP2_ENST00000416299.2_Silent_p.P118P|BAIAP2_ENST00000428708.2_Silent_p.P255P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	255					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCACCCTCCCCAGCGCCCTGT	0.711000													7	19					0	0	0.001984	0	0
FOLR4	390243	broad.mit.edu	37	11	94040458	94040458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:94040458G>A	ENST00000440961.2	+	3	499	c.455G>A	c.(454-456)tGg>tAg	p.W152*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	159						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGCTGGGACTGGAGTCAGGGT	0.587000													17	1					0	0	0.001216	0	0
UBE2O	63893	broad.mit.edu	37	17	74392229	74392229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:74392229G>A	ENST00000319380.7	-	14	2853	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	930							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTCCAGTACGGAGAAGACCTC	0.642000													13	16					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141754626	141754626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:141754626C>T	ENST00000475668.2	+	27	3286	c.3232C>T	c.(3232-3234)Cct>Tct	p.P1078S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1078S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1078	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCAGCACCCCTGAGGGTCA	0.448000													117	64					0	0	0.003610	0	0
C16orf78	123970	broad.mit.edu	37	16	49430385	49430385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:49430385C>T	ENST00000299191.3	+	4	563	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	149										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CGGCCAAACCCATTCCGTCGA	0.498000													31	35					0	0	0.003271	0	0
CCDC57	284001	broad.mit.edu	37	17	80159682	80159682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:80159682G>A	ENST00000392347.1	-	2	175	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q47*|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.Q47*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	47										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGTTTCCCCTGCGCCTCCTCC	0.667000													26	35					0	0	0.001786	0	0
CSMD2	114784	broad.mit.edu	37	1	34102028	34102028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:34102028G>A	ENST00000373381.4	-	30	5077	c.4901C>T	c.(4900-4902)tCg>tTg	p.S1634L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S507L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1594	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCAGGGTCGAGGTGCCCTC	0.642000													9	8					0	0	0.000673	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053127	85053127	+	RNA	SNP	T	T	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:85053127T>A	ENST00000414190.2	-	0	325					NR_003246.2																						ATGTTTTGTTTTTTTTTTTTC	0.363000													4	22					0	0	0.000602	0	0
KMT2B	9757	broad.mit.edu	37	19	36217228	36217228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:36217228C>T	ENST00000222270.7	+	14	3977	c.3977C>T	c.(3976-3978)cCc>cTc	p.P1326L	WBP7_ENST00000420124.1_Missense_Mutation_p.P1326L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					AGCCTCTGCCCCAGGTGCACC	0.597000													22	35					0	0	0.000878	0	0
OR4M1	441670	broad.mit.edu	37	14	20248981	20248981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20248981C>T	ENST00000315957.4	+	1	581	c.500C>T	c.(499-501)cCt>cTt	p.P167L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTCGACTTCCTTTCTGTGGG	0.493000													55	94					0	0	0.003610	0	0
ABCC3	8714	broad.mit.edu	37	17	48735850	48735850	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:48735850T>C	ENST00000285238.8	+	6	747	c.667T>C	c.(667-669)Ttc>Ctc	p.F223L	ABCC3_ENST00000427699.1_Missense_Mutation_p.F223L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	223					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTTCTGGTGGTTCACAAAGTG	0.592000													38	47					0	0	0.001951	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068452	57068452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:57068452G>A	ENST00000532437.1	-	9	5346	c.5035C>T	c.(5035-5037)Cag>Tag	p.Q1679*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1679*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1679	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACTCCTTCTGGCTCGACTTG	0.587000													37	1					0	0	0.001706	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445217	10445217	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:10445217C>T	ENST00000326756.3	-	3	3174	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAAGGATCCTTGAGACAGC	0.413000													49	61					0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:185800571G>A	ENST00000302277.6	+	4	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	150						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTAATGAAATTTCCCA	0.373000													23	25					0	0	0.003330	0	0
CDC25B	994	broad.mit.edu	37	20	3779075	3779075	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:3779075C>T	ENST00000245960.5	+	3	1042	c.345C>T	c.(343-345)tcC>tcT	p.S115S	CDC25B_ENST00000379598.5_Silent_p.S51S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.S51S|CDC25B_ENST00000439880.2_Silent_p.S101S|CDC25B_ENST00000340833.4_Silent_p.S115S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	115					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCATGGATTCCCCCAGCCCTA	0.478000													50	68					0	0	0.003610	0	0
DMBX1	127343	broad.mit.edu	37	1	46977754	46977754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:46977754G>A	ENST00000371956.4	+	4	752	c.737G>A	c.(736-738)gGg>gAg	p.G246E	DMBX1_ENST00000360032.3_Missense_Mutation_p.G241E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	246					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTGGCCCCAGGGGGTGGCCTC	0.627000													49	93					0	0	0.003610	0	0
IL7R	3575	broad.mit.edu	37	5	35875648	35875648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:35875648C>T	ENST00000303115.3	+	7	964	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	IL7R_ENST00000343305.4_Silent_p.I247I|IL7R_ENST00000506850.1_Silent_p.I247I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	279					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCCCCGATCATAAGAAGAC	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						45	33					0	0	0.003610	0	0
PTPRC	5788	broad.mit.edu	37	1	198665951	198665951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:198665951G>A	ENST00000367376.2	+	4	376	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPRC_ENST00000352140.3_Missense_Mutation_p.E69K|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.E71K|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	69					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGACTTCTCAGAGACCACAAC	0.458000													38	101					0	0	0.001485	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185144	193185144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:193185144C>T	ENST00000342695.4	-	10	1397	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	ATP13A4_ENST00000295548.3_Missense_Mutation_p.A359T|ATP13A4_ENST00000392443.3_Missense_Mutation_p.A359T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	359					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)		CCAGAGCAAGCTGCCTTGGCC	0.498000													24	20					0	0	0.002299	0	0
INADL	10207	broad.mit.edu	37	1	62235087	62235087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:62235087G>A	ENST00000371158.2	+	5	631	c.517G>A	c.(517-519)Gca>Aca	p.A173T	INADL_ENST00000316485.6_Missense_Mutation_p.A173T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	173	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGGAGTGTAGCAGACAGGTG	0.398000													50	73					0	0	0.003610	0	0
LHFP	10186	broad.mit.edu	37	13	40175225	40175225	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:40175225G>A	ENST00000379589.3	-	2	591	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	43						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGTACCGAAGGACACAGGCT	0.552000			T	HMGA2	lipoma								63	10					0	0	0.003610	0	0
JAK1	3716	broad.mit.edu	37	1	65305330	65305330	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:65305330T>A	ENST00000342505.4	-	20	3046	c.2798A>T	c.(2797-2799)tAt>tTt	p.Y933F		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	933	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTTCTCATGATAGAGGTTCCT	0.443000			Mis		ALL								45	69					0	0	0.003610	0	0
SMC2	10592	broad.mit.edu	37	9	106901545	106901545	+	Silent	SNP	G	G	A	rs144844202		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:106901545G>A	ENST00000286398.7	+	25	3831	c.3543G>A	c.(3541-3543)aaG>aaA	p.K1181K	SMC2_ENST00000374787.3_Silent_p.K1181K|SMC2_ENST00000374793.3_Silent_p.K1181K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1181					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGATTTCAAAGGAAGCAAAAT	0.343000													18	35					0	0	0.001523	0	0
IFNA17	3451	broad.mit.edu	37	9	21227840	21227840	+	Silent	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:21227840T>C	ENST00000413767.2	-	1	381	c.333A>G	c.(331-333)gaA>gaG	p.E111E		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCTGGTAAAGTTCAGTGGAAA	0.488000													55	14					0	0	0.003610	0	0
PSG11	5680	broad.mit.edu	37	19	43519492	43519492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:43519492G>A	ENST00000401740.1	-	4	843	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG11_ENST00000320078.7_Missense_Mutation_p.S247L|PSG11_ENST00000306322.7_Missense_Mutation_p.S125L|PSG11_ENST00000403486.1_Missense_Mutation_p.S125L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	247	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGAGGTGACTGAAGGGAAAAT	0.468000													52	69					0	0	0.003610	0	0
OR4N2	390429	broad.mit.edu	37	14	20296087	20296087	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:20296087G>A	ENST00000568211.1	+	1	480	c.480G>A	c.(478-480)gtG>gtA	p.V160V	OR4N2_ENST00000315947.1_Silent_p.V160V			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATCCAGGTGGTCCTCATCC	0.532000													58	78					0	0	0.003610	0	0
MORC2	22880	broad.mit.edu	37	22	31331235	31331235	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:31331235C>T	ENST00000215862.4	-	19	2989	c.1626_splice	c.e19+1	p.E542_splice	MORC2_ENST00000397641.2_Splice_Site_p.E604_splice	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	604							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGACTTCACCTCAGTGGAAG	0.517000													8	10					0	0	0.000443	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463006	5463006	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:5463006T>C	ENST00000296564.7	+	13	3781	c.3559T>C	c.(3559-3561)Tat>Cat	p.Y1187H		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1187										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTTAGGGGATTATAGTTCAGG	0.373000													3	20					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9026203	9026203	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:9026203G>A	ENST00000397910.4	-	14	36986	c.36783C>T	c.(36781-36783)gtC>gtT	p.V12261V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12263	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCTGCAGGACACTCTCCA	0.542000													64	84					0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000379853.2_Silent_p.R557R|ADAM2_ENST00000347580.4_Silent_p.R694R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000													45	80					0	0	0.003610	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294089	28294089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:28294089C>T	ENST00000414429.1	-	8	1978	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.A359T|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.A359T|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.A200T|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.A359T					zinc finger and SCAN domain containing 31																		TGAATGAAGGCTTTGCCACAC	0.502000													90	92					0	0	0.003610	0	0
FSTL4	23105	broad.mit.edu	37	5	132535121	132535121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:132535121G>A	ENST00000265342.7	-	16	2444	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	732						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGATGCCCGAGTTTATTTG	0.572000													25	2					0	0	0.001271	0	0
ARAP2	116984	broad.mit.edu	37	4	36069787	36069787	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:36069787C>T	ENST00000303965.4	-	33	5346	c.4857G>A	c.(4855-4857)aaG>aaA	p.K1619K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1619					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTTATCGTCCTTGTGCTCCA	0.512000													51	69					0	0	0.003610	0	0
KRT73	319101	broad.mit.edu	37	12	53009995	53009995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:53009995G>A	ENST00000305748.3	-	2	651	c.617C>T	c.(616-618)tCg>tTg	p.S206L		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCAGCTCCGAGTCCAGCCT	0.607000													48	57					0	0	0.003610	0	0
DUSP26	78986	broad.mit.edu	37	8	33449605	33449605	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:33449605T>G	ENST00000256261.4	-	4	1079	c.562A>C	c.(562-564)Atc>Ctc	p.I188L	DUSP26_ENST00000523956.1_Missense_Mutation_p.I188L	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	188	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TTGGGGATGATGCCTCGGTGG	0.647000													14	24					0	0	0.004007	0	0
ADH6	130	broad.mit.edu	37	4	100134848	100134848	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:100134848C>T	ENST00000394897.1	-	3	259	c.177G>A	c.(175-177)ttG>ttA	p.L59L	ADH6_ENST00000237653.7_Silent_p.L59L|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Silent_p.L59L|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	59					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACAAGAGGTCCAAGTGTTTAC	0.502000													31	40					0	0	0.001512	0	0
BPI	671	broad.mit.edu	37	20	36953197	36953197	+	Nonsense_Mutation	SNP	C	C	T	rs150749170		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:36953197C>T	ENST00000262865.4	+	9	1056	c.967C>T	c.(967-969)Cga>Tga	p.R323*	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.512000													26	44					0	0	0.004289	0	0
EFTUD1	79631	broad.mit.edu	37	15	82517553	82517553	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:82517553G>A	ENST00000268206.7	-	12	1413	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_ENST00000359445.3_Silent_p.S364S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	415					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378000													5	56					0	0	0.003080	0	0
SLC25A21	89874	broad.mit.edu	37	14	37203731	37203731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:37203731G>A	ENST00000331299.5	-	4	766	c.251C>T	c.(250-252)aCc>aTc	p.T84I	SLC25A21_ENST00000555449.1_Missense_Mutation_p.T84I	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	84					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCTTTTTGGGGTTTCAGCCAA	0.393000													5	2					0	0	0.001984	0	0
HERC2	8924	broad.mit.edu	37	15	28419674	28419674	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:28419674G>A	ENST00000261609.7	-	65	10032	c.9924C>T	c.(9922-9924)ggC>ggT	p.G3308G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3308					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G3308G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGATCTTCTGGCCTTCTAAGC	0.597000													21	30					0	0	0.003954	0	0
FKRP	79147	broad.mit.edu	37	19	47260078	47260078	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:47260078C>T	ENST00000318584.5	+	4	1668	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.F457F	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	457						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTGCCGGCTTCGTGGCGCAGG	0.652000													4	7					0	0	0.001168	0	0
ABCA13	154664	broad.mit.edu	37	7	48315402	48315402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:48315402G>A	ENST00000435803.1	+	17	6163	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2047					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGTTTTATTGAAAAAAGTGA	0.358000													24	11					0	0	0.000878	0	0
DKK1	22943	broad.mit.edu	37	10	54076091	54076091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:54076091G>A	ENST00000373970.3	+	3	582	c.443G>A	c.(442-444)gGa>gAa	p.G148E	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	148					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CATTTCCGAGGAGAAATTGAG	0.398000													23	0					0	0	0.002299	0	0
UNC13C	440279	broad.mit.edu	37	15	54556559	54556559	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:54556559G>A	ENST00000545554.1	+	8	3642	c.3642G>A	c.(3640-3642)ggG>ggA	p.G1214G	UNC13C_ENST00000260323.11_Silent_p.G1214G|UNC13C_ENST00000537900.1_Silent_p.G1212G			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1214	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTGGATGGGACATCTAAGT	0.343000													4	6					0	0	0.000248	0	0
OR14K1	343170	broad.mit.edu	37	1	247902063	247902063	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:247902063G>A	ENST00000283225.2	+	1	147	c.147G>A	c.(145-147)ctG>ctA	p.L49L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCATGATTCTGGACCATCGTC	0.473000													31	94					0	0	0.002445	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	36					0	0	0.001168	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001148	121001148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121001148C>T	ENST00000273666.6	+	20	2417	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P716S|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P716S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	716					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACTTTTATCCTGATTTAAC	0.388000													26	23					0	0	0.001061	0	0
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:159163801G>A	ENST00000368125.4	+	5	819	c.662G>A	c.(661-663)aGa>aAa	p.R221K	CADM3_ENST00000368124.4_Missense_Mutation_p.R255K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	221	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R255T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGAGCTGACAGATCCACCTCT	0.502000													39	70					0	0	0.003214	0	0
CIITA	4261	broad.mit.edu	37	16	10996615	10996615	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:10996615C>T	ENST00000324288.8	+	8	862	c.729C>T	c.(727-729)atC>atT	p.I243I	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.I194I	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	243					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTGGCAAATCTCTGAGGCTG	0.587000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								30	36					0	0	0.001512	0	0
KCNG4	93107	broad.mit.edu	37	16	84256351	84256351	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:84256351G>A	ENST00000308251.4	-	3	1100	c.1032C>T	c.(1030-1032)atC>atT	p.I344I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	344						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCACGTAGAGGATGCGCAGCG	0.692000													4	8					0	0	0.000248	0	0
PRDM16	63976	broad.mit.edu	37	1	3350340	3350340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:3350340G>A	ENST00000378398.3	+	18	3878	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K	PRDM16_ENST00000378391.2_Missense_Mutation_p.E1247K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1246K|PRDM16_ENST00000514189.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.E1266K|PRDM16_ENST00000511072.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1265K|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1266	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCACGTCGGAGTCTGGAGC	0.642000			T	EVI1	"""MDS, AML"""								45	48					0	0	0.003610	0	0
GALT	2592	broad.mit.edu	37	9	34648802	34648802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:34648802C>T	ENST00000378842.3	+	8	773	c.731C>T	c.(730-732)cCc>cTc	p.P244L	GALT_ENST00000450095.2_Missense_Mutation_p.P135L|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	244					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTACTGGTCCCCTTCTGGGCA	0.582000									Galactosemia				65	7					0	0	0.003610	0	0
MICALL2	79778	broad.mit.edu	37	7	1474304	1474304	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:1474304G>A	ENST00000297508.7	-	17	2818	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	MICALL2_ENST00000405088.4_Silent_p.L669L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	881						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCTTCCTCTGGAGGCCTAGGG	0.617000													55	32					0	0	0.003610	0	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000594404.1_Silent_p.T290T|PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000348564.6_Silent_p.T292T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308000													21	68					0	0	0.001523	0	0
FLT4	2324	broad.mit.edu	37	5	180043405	180043405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:180043405C>T	ENST00000261937.6	-	23	3259	c.3181G>A	c.(3181-3183)Gac>Aac	p.D1061N	FLT4_ENST00000393347.3_Missense_Mutation_p.D1061N|FLT4_ENST00000502649.1_Missense_Mutation_p.D1061N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1061	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGATGTCCCGGGCAAGG	0.607000													24	0					0	0	0.003954	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449830	105449830	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:105449830G>A	ENST00000337685.2	+	5	1190	c.405G>A	c.(403-405)cgG>cgA	p.R135R	MUM1L1_ENST00000372552.1_Silent_p.R135R|MUM1L1_ENST00000357175.2_Silent_p.R135R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	135										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAATACCGGAAGGATGAAG	0.418000													19	3					0	0	0.002299	0	0
RBFOX1	54715	broad.mit.edu	37	16	7657328	7657328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:7657328G>A	ENST00000340209.4	+	7	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RBFOX1_ENST00000547372.1_Missense_Mutation_p.E265K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E179K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E242K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E242K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E265K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E239K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E222K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E242K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	222					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTACAGTCCCGAATTCTATGC	0.353000													69	50					0	0	0.003610	0	0
PASD1	139135	broad.mit.edu	37	X	150791487	150791487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150791487G>A	ENST00000370357.4	+	7	742	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	166						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAGGATCGGCTTTATCTT	0.502000													62	8					0	0	0.003610	0	0
CAPN13	92291	broad.mit.edu	37	2	30964797	30964797	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:30964797T>A	ENST00000295055.8	-	15	1689	c.1513A>T	c.(1513-1515)Att>Ttt	p.I505F	CAPN13_ENST00000534090.2_Missense_Mutation_p.I505F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	505					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CTGTTGAAAATGCTTTGTTGG	0.527000													22	26					0	0	0.003954	0	0
OR5B12	390191	broad.mit.edu	37	11	58206830	58206830	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:58206830G>A	ENST00000302572.2	-	1	816	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGCCCATGAAATGGCTGG	0.453000													38	2					0	0	0.001706	0	0
DPYS	1807	broad.mit.edu	37	8	105463604	105463604	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:105463604A>T	ENST00000351513.2	-	2	425	c.293T>A	c.(292-294)aTt>aAt	p.I98N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	98					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAATCAATAATCATGGTGGT	0.453000													25	27					0	0	0.001271	0	0
GPR50	9248	broad.mit.edu	37	X	150349230	150349230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:150349230C>T	ENST00000218316.3	+	2	1244	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	392	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATTCCAGATCCTCCTCTGCC	0.582000													50	3					0	0	0.003610	0	0
OR52B2	255725	broad.mit.edu	37	11	6191110	6191110	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:6191110G>A	ENST00000530810.1	-	1	528	c.447C>T	c.(445-447)gcC>gcT	p.A149A	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGATGACGGCCAGAGCAA	0.517000													23	3					0	0	0.002299	0	0
ZNF786	136051	broad.mit.edu	37	7	148768085	148768085	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:148768085G>A	ENST00000316286.9	-	3	1793	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	ZNF786_ENST00000491431.1_Silent_p.F593F|ZNF786_ENST00000451334.3_Silent_p.F556F			Q8N393	ZN786_HUMAN	zinc finger protein 786	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGGCACTGGAAGGGTCTCT	0.647000													21	7					0	0	0.001882	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744593	140744593	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140744593C>T	ENST00000518069.1	+	1	696	c.696C>T	c.(694-696)gtC>gtT	p.V232V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTACGGTCCTCGACGCAA	0.587000													20	6					0	0	0.002299	0	0
OR5H1	26341	broad.mit.edu	37	3	97852162	97852162	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:97852162G>A	ENST00000354565.2	+	1	621	c.621G>A	c.(619-621)caG>caA	p.Q207Q	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTCAATTCAGGTATTCAGCA	0.313000													19	29					0	0	0.000958	0	0
LAG3	3902	broad.mit.edu	37	12	6886466	6886466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:6886466G>A	ENST00000203629.2	+	6	1427	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	365	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCCTGGGGAAGCTGCTT	0.517000													61	61					0	0	0.003610	0	0
KLK11	11012	broad.mit.edu	37	19	51527553	51527553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:51527553G>A	ENST00000594768.1	-	4	492	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	KLK11_ENST00000319720.7_Missense_Mutation_p.H71Y|KLK11_ENST00000391804.3_Missense_Mutation_p.H96Y|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000453757.3_Missense_Mutation_p.H71Y|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	103	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TGCCCCAGGTGAACTATGTAG	0.592000													21	40					0	0	0.001882	0	0
EIF4G1	1981	broad.mit.edu	37	3	184052517	184052517	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:184052517C>T	ENST00000342981.4	+	32	5038	c.4624C>T	c.(4624-4626)Ctg>Ttg	p.L1542L	EIF4G1_ENST00000427845.1_Silent_p.L1455L|EIF4G1_ENST00000434061.2_Silent_p.L1346L|EIF4G1_ENST00000424196.1_Silent_p.L1548L|EIF4G1_ENST00000411531.1_Silent_p.L1502L|EIF4G1_ENST00000352767.3_Silent_p.L1548L|EIF4G1_ENST00000346169.2_Silent_p.L1541L|EIF4G1_ENST00000414031.1_Silent_p.L1501L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.L1377L|EIF4G1_ENST00000392537.2_Silent_p.L1454L|EIF4G1_ENST00000319274.6_Silent_p.L1541L|EIF4G1_ENST00000441154.1_Silent_p.L1378L|EIF4G1_ENST00000382330.3_Silent_p.L1548L|EIF4G1_ENST00000435046.2_Silent_p.L1345L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1541	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTGCAGACCTGCTGCGGAT	0.602000													20	16					0	0	0.002780	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	75					0	0	0.000248	0	0
TET2	54790	broad.mit.edu	37	4	106156322	106156322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:106156322C>T	ENST00000540549.1	+	3	2083	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	TET2_ENST00000380013.4_Missense_Mutation_p.P408L|TET2_ENST00000305737.2_Missense_Mutation_p.P408L|TET2_ENST00000545826.1_Missense_Mutation_p.P408L|TET2_ENST00000394764.1_Missense_Mutation_p.P408L|TET2_ENST00000513237.1_Missense_Mutation_p.P429L|TET2_ENST00000413648.2_Missense_Mutation_p.P408L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	408	Pro-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCTTTCTCCCCCTCCTCCT	0.468000			"""Mis N, F"""		MDS								45	40					0	0	0.003610	0	0
ZNF664	144348	broad.mit.edu	37	12	124496987	124496987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:124496987G>A	ENST00000539644.1	+	6	2126	c.296G>A	c.(295-297)aGc>aAc	p.S99N	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.S99N|ZNF664_ENST00000538932.2_Missense_Mutation_p.S99N|ZNF664_ENST00000337815.4_Missense_Mutation_p.S99N			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTCAATTGGAGCTCCCATCTT	0.393000													29	39					0	0	0.001271	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184692	72184692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:72184692C>T	ENST00000537465.1	-	5	609	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E151K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E6K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	151										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTGTGTTCTCGTTGTGATTT	0.502000													35	53					0	0	0.002222	0	0
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:21250883G>A	ENST00000298925.5	+	15	1669	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NELL1_ENST00000325319.5_Missense_Mutation_p.D421N|NELL1_ENST00000357134.5_Missense_Mutation_p.D478N|NELL1_ENST00000532434.1_Missense_Mutation_p.D478N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	478	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463000													33	4					0	0	0.003755	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264526	61264526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:61264526C>T	ENST00000344731.5	+	8	1207	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P317S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	369					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGCAATCATCCCTTCCTGTT	0.498000													41	4					0	0	0.003214	0	0
STAG1	10274	broad.mit.edu	37	3	136240063	136240063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:136240063G>A	ENST00000383202.2	-	7	924	c.668C>T	c.(667-669)aCc>aTc	p.T223I	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Missense_Mutation_p.T223I|STAG1_ENST00000480733.1_Missense_Mutation_p.T223I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	223					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCAGCCAGGGTACTTGTATG	0.323000													29	24					0	0	0.001061	0	0
THBS1	7057	broad.mit.edu	37	15	39882059	39882059	+	Silent	SNP	C	C	T	rs148609363		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:39882059C>T	ENST00000260356.5	+	13	2145	c.1980C>T	c.(1978-1980)aaC>aaT	p.N660N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	660	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAACAAGAACGCCAAGTGCA	0.582000													7	11					0	0	0.000274	0	0
GCOM1	145781	broad.mit.edu	37	15	57910309	57910309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:57910309C>T	ENST00000574161.1	+	3	360	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	GCOM1_ENST00000380568.3_Nonsense_Mutation_p.Q81*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.Q81*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.Q81*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.Q81*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.Q81*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.Q81*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.Q81*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.Q81*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.Q81*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		81					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGATCAGATCAAAATCAGCA	0.423000													19	23					0	0	0.000958	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141416	41141416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:41141416C>T	ENST00000361677.1	+	3	728	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	239										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACATCAGTTCCCTGTCCACT	0.448000													17	25					0	0	0.000743	0	0
CDH4	1002	broad.mit.edu	37	20	60485628	60485628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:60485628C>T	ENST00000360469.5	+	9	1427	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	CDH4_ENST00000543233.1_Missense_Mutation_p.P373S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	447	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGCACAGACCCCGTAACCAA	0.602000													12	14					0	0	0.001855	0	0
SDK1	221935	broad.mit.edu	37	7	4056966	4056966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:4056966G>A	ENST00000404826.2	+	17	2723	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	SDK1_ENST00000389531.3_Missense_Mutation_p.E862K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	862	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCAGTGACCGAGTACACCTT	0.562000													22	32					0	0	0.000721	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:25862543G>A	ENST00000397060.4	-	3	330	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74F|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448000													31	38					0	0	0.002096	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052914	33052914	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:33052914C>T	ENST00000418931.2	+	3	668	c.552C>T	c.(550-552)atC>atT	p.I184I		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	184	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCTTCCAGATCCTGGTGATGC	0.562000													40	45					0	0	0.001287	0	0
GABRP	2568	broad.mit.edu	37	5	170222424	170222424	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:170222424C>T	ENST00000518525.1	+	6	917	c.453C>T	c.(451-453)gcC>gcT	p.A151A	GABRP_ENST00000519598.1_Silent_p.A151A|GABRP_ENST00000265294.4_Silent_p.A151A|GABRP_ENST00000519385.1_Silent_p.A151A			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	151						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTGTATGCCCTCAGGTACG	0.532000													24	1					0	0	0.002780	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730447	15730447	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:15730447G>A	ENST00000441682.2	+	0	463							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCGTACTAGGGGATGGGCTCT	0.532000													15	11					0	0	0.002450	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834558	125834558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:125834558G>A	ENST00000299308.3	+	2	621	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	205						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCAGAGGAGGAGATCCCAGC	0.647000													18	25					0	0	0.001216	0	0
PKD2L1	9033	broad.mit.edu	37	10	102059380	102059380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:102059380G>A	ENST00000318222.3	-	3	827	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q149*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.Q149*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	149					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGATGGCCTGAAAGGAGACT	0.483000													39	2					0	0	0.001706	0	0
ITGB8	3696	broad.mit.edu	37	7	20418903	20418903	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:20418903G>A	ENST00000222573.3	+	4	1302	c.618G>A	c.(616-618)agG>agA	p.R206R	ITGB8_ENST00000537992.1_Silent_p.R71R	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACCCCGAAAGGATTCATAATC	0.338000													39	24					0	0	0.001951	0	0
POTEG	404785	broad.mit.edu	37	14	19553777	19553777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:19553777G>A	ENST00000409832.3	+	1	413	c.361G>A	c.(361-363)Gga>Aga	p.G121R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	121										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCCCTTGGGGAGACTACGA	0.602000													52	360					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82390007	82390007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:82390007G>A	ENST00000333891.8	-	24	15573	c.15236C>T	c.(15235-15237)tCg>tTg	p.S5079L		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5002					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCATTAAACGAAGGCTCTCG	0.323000													43	71					0	0	0.003610	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:28472261C>T	ENST00000474923.1	-	4	417	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	GPX6_ENST00000361902.1_Silent_p.P158P			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	24					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GATCAGAGGTCGGAGGGCAGG	0.443000													21	21					0	0	0.001216	0	0
PCED1A	64773	broad.mit.edu	37	20	2816131	2816131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:2816131G>A	ENST00000360652.2	-	8	1844	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y	PCED1A_ENST00000356872.3_Missense_Mutation_p.H397Y	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		GTCCCCGAATGGGCAGGAGGC	0.622000													12	26					0	0	0.001368	0	0
CDH26	60437	broad.mit.edu	37	20	58587777	58587777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:58587777C>T	ENST00000348616.4	+	18	2791	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	CDH26_ENST00000350849.6_Missense_Mutation_p.P164S|CDH26_ENST00000244049.3_Missense_Mutation_p.P123S|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTCAGGTGTTCCTTCCTAAAA	0.408000													22	24					0	0	0.002780	0	0
LTA4H	4048	broad.mit.edu	37	12	96396801	96396801	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:96396801A>G	ENST00000228740.2	-	18	1796	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.I528T|LTA4H_ENST00000413268.2_Silent_p.N500N	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	552					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CGCCAAAGGAATTGCGTCCTC	0.473000													7	12					0	0	0.000274	0	0
KIF25	3834	broad.mit.edu	37	6	168445645	168445645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:168445645C>T	ENST00000443060.2	+	10	1515	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	KIF25_ENST00000351261.3_Missense_Mutation_p.S323F|KIF25_ENST00000354419.2_Missense_Mutation_p.S375F			Q9UIL4	KIF25_HUMAN	kinesin family member 25	375					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCGCCCAGCTCCCAAACGGAG	0.547000													33	34					0	0	0.003271	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148944420	148944420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:148944420C>T	ENST00000336498.3	+	19	1962	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.R224W	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	575					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGATTTTTCGGACGCCGCC	0.488000													32	37					0	0	0.003755	0	0
MAPK13	5603	broad.mit.edu	37	6	36107085	36107085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:36107085G>A	ENST00000211287.4	+	12	1295	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	MAPK13_ENST00000373761.6_Missense_Mutation_p.E335K|MAPK13_ENST00000373766.5_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	345					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CATCTACAAGGAGATTGTGAA	0.567000													29	35					0	0	0.001512	0	0
NEFH	4744	broad.mit.edu	37	22	29885119	29885119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:29885119G>A	ENST00000310624.6	+	4	1523	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	497	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						gcagaagggggagaagaagAA	0.542000													11	17					0	0	0.000673	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956649	16956649	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:16956649G>A	ENST00000412962.1	-	0	294																											TGGGGCGTGGGGATCACAGAG	0.642000													5	30					0	0	0.000602	0	0
STOX1	219736	broad.mit.edu	37	10	70645591	70645591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:70645591C>T	ENST00000298596.6	+	3	2122	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L	STOX1_ENST00000399169.4_Missense_Mutation_p.P680L|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.P570L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	680						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGCGTGAACCCTTTAAGACAA	0.413000													37	4					0	0	0.004289	0	0
TSPAN13	27075	broad.mit.edu	37	7	16816729	16816729	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:16816729C>T	ENST00000262067.4	+	3	727	c.294C>T	c.(292-294)gcC>gcT	p.A98A	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	98						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CTTGTTTAGCCCTGAACCAGG	0.313000													51	51					0	0	0.003610	0	0
DGKI	9162	broad.mit.edu	37	7	137237234	137237234	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:137237234G>A	ENST00000453654.1	-	20	1667	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	DGKI_ENST00000446122.1_Silent_p.P676P|DGKI_ENST00000424189.2_Silent_p.P676P|DGKI_ENST00000288490.5_Silent_p.P676P			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	676	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACTTGCATGGGGATGGATT	0.507000													131	80					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683911	100683911	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:100683911G>T	ENST00000306151.4	+	3	9278	c.9214G>T	c.(9214-9216)Gac>Tac	p.D3072Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3072	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACTCCAACAG	0.483000													261	126					3.24227e-129	1.2301e-128	0.003610	1	0
COLGALT1	79709	broad.mit.edu	37	19	17692028	17692028	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:17692028C>T	ENST00000252599.4	+	12	1764	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		ACCTGCATGCCTTCTCTGTGG	0.602000													94	93					0	0	0.003610	0	0
REN	5972	broad.mit.edu	37	1	204125360	204125360	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:204125360G>A	ENST00000367195.2	-	7	940	c.897C>T	c.(895-897)acC>acT	p.T299T	REN_ENST00000272190.8_Silent_p.T302T			P00797	RENI_HUMAN	renin	302					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTATGGAGCTGGTAGAACCTG	0.582000													85	149					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139144881	139144881	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:139144881G>A	ENST00000395297.1	-	20	4346	c.4176C>T	c.(4174-4176)ttC>ttT	p.F1392F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1392										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTTCTCCAGGAAGAGTTCTG	0.527000										HNSCC(54;0.14)			85	112					0	0	0.003610	0	0
COL1A2	1278	broad.mit.edu	37	7	94054461	94054461	+	Silent	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:94054461T>C	ENST00000297268.6	+	42	3177	c.2706T>C	c.(2704-2706)ccT>ccC	p.P902P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	902					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTGCCGGCCCTCCTGGGGCCC	0.532000										HNSCC(75;0.22)			40	39					0	0	0.003610	0	0
ZNF83	55769	broad.mit.edu	37	19	53116288	53116288	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53116288C>T	ENST00000597597.1	-	2	3783	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	ZNF83_ENST00000301096.3_Silent_p.K510K|ZNF83_ENST00000536937.1_Silent_p.K510K|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.K482K|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.K510K|ZNF83_ENST00000541777.2_Silent_p.K510K|ZNF83_ENST00000544146.1_Silent_p.K510K			P51522	ZNF83_HUMAN	zinc finger protein 83	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTTAGATTTCTTTCCGGCAT	0.358000													22	24					0	0	0.003330	0	0
FAM47A	158724	broad.mit.edu	37	X	34150008	34150008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:34150008G>A	ENST00000346193.3	-	1	439	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	130										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						ATGGCCAAGGGATGCTTGGCC	0.557000													49	3					0	0	0.003610	0	0
SEC24A	10802	broad.mit.edu	37	5	134002605	134002605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:134002605C>T	ENST00000398844.2	+	3	946	c.658C>T	c.(658-660)Cca>Tca	p.P220S	SEC24A_ENST00000322887.4_Missense_Mutation_p.P220S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	220	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCCACCCCCAGTGAGGGC	0.522000													35	5					0	0	0.000954	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077423	79077423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:79077423C>T	ENST00000321300.6	+	8	857	c.764C>T	c.(763-765)cCc>cTc	p.P255L	BAIAP2_ENST00000575712.1_Missense_Mutation_p.P255L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P177L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P288L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P255L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P255L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P118L|BAIAP2_ENST00000428708.2_Missense_Mutation_p.P255L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	255					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCACCCTCCCCAGCGCCCTG	0.706000													6	18					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:40944419G>A	ENST00000373198.3	-	12	2318	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F|PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000													26	43					0	0	0.000721	0	0
TSC2	7249	broad.mit.edu	37	16	2138456	2138456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:2138456G>A	ENST00000219476.3	+	42	5899	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	TSC2_ENST00000382538.6_Missense_Mutation_p.E1642K|TSC2_ENST00000401874.2_Missense_Mutation_p.E1690K|TSC2_ENST00000350773.4_Missense_Mutation_p.E1734K|TSC2_ENST00000439673.2_Missense_Mutation_p.E1654K|TSC2_ENST00000568454.1_Missense_Mutation_p.E1701K|TSC2_ENST00000353929.4_Missense_Mutation_p.E1714K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1757	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GATCTGCGAGGAAGCCGCCTA	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	60					0	0	0.003954	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121712468G>A	ENST00000273691.3	-	6	1101	c.996C>T	c.(994-996)ttC>ttT	p.F332F	ILDR1_ENST00000462014.1_Silent_p.F344F|ILDR1_ENST00000393631.1_Silent_p.F287F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Silent_p.F376F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	376						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGGTGGAAATCAGGGT	0.602000													33	12					0	0	0.003755	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48802507	48802507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:48802507G>A	ENST00000265563.8	-	8	1052	c.803C>T	c.(802-804)tCa>tTa	p.S268L	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.S268L|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.S268L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	268					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CATTCGTTCTGACACCTGAAA	0.378000													19	15					0	0	0.001882	0	0
TMEM144	55314	broad.mit.edu	37	4	159136447	159136447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:159136447G>A	ENST00000514558.1	+	3	2010	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	TMEM144_ENST00000296529.6_Missense_Mutation_p.G72S			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	72						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATGCTTGGGGGCTGCATTTG	0.383000													40	29					0	0	0.001485	0	0
HERC2	8924	broad.mit.edu	37	15	28419673	28419673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:28419673G>A	ENST00000261609.7	-	65	10033	c.9925C>T	c.(9925-9927)Cag>Tag	p.Q3309*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3309					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGATCTTCTGGCCTTCTAAG	0.597000													21	30					0	0	0.003954	0	0
ATF5	22809	broad.mit.edu	37	19	50435745	50435745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:50435745C>T	ENST00000423777.2	+	3	622	c.245C>T	c.(244-246)cCc>cTc	p.P82L	ATF5_ENST00000595125.1_Missense_Mutation_p.P82L|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	82					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTGGAGCCTCCCTTACCCCCC	0.572000													16	14					0	0	0.004007	0	0
CDSN	1041	broad.mit.edu	37	6	31084213	31084213	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:31084213G>A	ENST00000376288.2	-	2	1205	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	393	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGAACTGGAGGGAGAGCAGG	0.642000													4	0					0	0	0.000248	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074054	8074054	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:8074054C>T	ENST00000075120.7	-	10	1686	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	482					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGCTGTTCATCTCCATGACGC	0.567000													53	202					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21231126	21231126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:21231126C>T	ENST00000233242.1	-	26	8741	c.8614G>A	c.(8614-8616)Gga>Aga	p.G2872R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2872					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACAATCACTCCATTACTAAGC	0.393000													318	320					0	0	0.003610	0	0
TDRD1	56165	broad.mit.edu	37	10	115963267	115963267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:115963267G>A	ENST00000251864.2	+	8	1075	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	TDRD1_ENST00000369280.1_Missense_Mutation_p.E308K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E308K|TDRD1_ENST00000422662.1_Missense_Mutation_p.E17K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E308K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	308					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATGTGCATGAAAAAGACTA	0.363000													27	1					0	0	0.001512	0	0
DHRS9	10170	broad.mit.edu	37	2	169938290	169938290	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:169938290A>C	ENST00000327239.4	+	5	1703	c.199A>C	c.(199-201)Aca>Cca	p.T67P	DHRS9_ENST00000602501.1_Missense_Mutation_p.T67P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T67P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T127P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T67P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.T67P|DHRS9_ENST00000357546.2_Missense_Mutation_p.T67P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	67					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATCAGGATCAACAGCTTTAAA	0.473000													33	44					0	0	0.002096	0	0
MYO9A	4649	broad.mit.edu	37	15	72190181	72190181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:72190181C>T	ENST00000356056.5	-	25	5135	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1536K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E1175K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1555K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1555K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1555	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGCCTCTCTACTCTTTGC	0.423000													24	22					0	0	0.000721	0	0
EPPK1	83481	broad.mit.edu	37	8	144940344	144940344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144940344C>T	ENST00000525985.1	-	2	7149	c.7078G>A	c.(7078-7080)Gac>Aac	p.D2360N				P58107	EPIPL_HUMAN	epiplakin 1	2360						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGCCACGTCCACGGGCACG	0.692000													13	376					0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92085877	92085877	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:92085877A>G	ENST00000298047.6	+	1	616	c.599A>G	c.(598-600)aAa>aGa	p.K200R	FAT3_ENST00000541502.1_Missense_Mutation_p.K200R|FAT3_ENST00000525166.1_Missense_Mutation_p.K50R|FAT3_ENST00000409404.2_Missense_Mutation_p.K200R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	200	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTAAAAATAAAGTTGATCTC	0.393000										TCGA Ovarian(4;0.039)			509	26					0	0	0.003610	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:128135017C>T	ENST00000368250.1	-	5	1030	c.532G>A	c.(532-534)Gat>Aat	p.D178N	THEMIS_ENST00000368248.2_Missense_Mutation_p.D257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D222N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D257N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	257	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000													57	80					0	0	0.003610	0	0
FGF9	2254	broad.mit.edu	37	13	22255210	22255210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:22255210G>A	ENST00000382353.5	+	2	837	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	103					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATAGCAGTGGGCCTGGTCAG	0.512000													53	69					0	0	0.003610	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835842	12835842	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:12835842C>T	ENST00000357726.4	+	2	471	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	148										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGGTGATCCTAGACCTTT	0.547000													49	55					0	0	0.003610	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035894	95035894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:95035894C>T	ENST00000557004.1	+	5	1667	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	SERPINA4_ENST00000298841.5_Missense_Mutation_p.L416F|SERPINA4_ENST00000555095.1_Missense_Mutation_p.L416F|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	416					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGAGTGTCCTCTTTCTGGG	0.577000													35	3					0	0	0.001706	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032286	9032286	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:9032286G>A	ENST00000383836.3	-	21	3223	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	SRGAP3_ENST00000360413.3_Silent_p.S908S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	932					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTGCCCTTCGGAGAGCGCCT	0.652000			T	RAF1	pilocytic astrocytoma								5	11					0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013850	156013850	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156013850G>A	ENST00000368309.3	-	6	1157	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	355						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GCACCTGGCTGGTCCCCGATC	0.667000													19	24					0	0	0.001882	0	0
COL4A5	1287	broad.mit.edu	37	X	107850056	107850056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:107850056C>T	ENST00000328300.6	+	29	2573	c.2329C>T	c.(2329-2331)Cgt>Tgt	p.R777C	COL4A5_ENST00000361603.2_Missense_Mutation_p.R777C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	777	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAAAGGTGATCGTGGTTTCCC	0.547000									Alport syndrome with Diffuse Leiomyomatosis				66	5					0	0	0.003610	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374888	6374888	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:6374888C>T	ENST00000245812.3	+	4	958	c.570C>T	c.(568-570)cgC>cgT	p.R190R	ALKBH7_ENST00000596657.1_Silent_p.R48R|ALKBH7_ENST00000599849.1_Silent_p.R129R	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	190						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGGGGAACGCCGGATTCCCC	0.647000													24	23					0	0	0.003954	0	0
SCN3A	6328	broad.mit.edu	37	2	165997165	165997165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:165997165G>A	ENST00000360093.3	-	13	2506	c.2015C>T	c.(2014-2016)cCa>cTa	p.P672L	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.P672L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TATCACCTCTGGGGGAAGTTG	0.478000													11	16					0	0	0.001368	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				61	30					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48379540	48379540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:48379540G>A	ENST00000380518.3	-	25	1815	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P482S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	551	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCAGGACGGCCAGGG	0.647000													16	13					0	0	0.000958	0	0
FGF12	2257	broad.mit.edu	37	3	191861816	191861816	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:191861816C>T	ENST00000454309.2	-	5	1539	c.714G>A	c.(712-714)gtG>gtA	p.V238V	FGF12_ENST00000430714.1_Silent_p.V139V|FGF12_ENST00000450716.1_Silent_p.V176V|FGF12_ENST00000264730.3_Silent_p.V176V|FGF12_ENST00000445105.1_Silent_p.V176V	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	238				TPTMNGGKVVNQDST -> HHHDGGKL (in Ref. 2; AAB18786).	cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AATCTTGATTCACAACTTTGC	0.443000													65	83					0	0	0.003610	0	0
ACTN4	81	broad.mit.edu	37	19	39215191	39215191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:39215191C>T	ENST00000252699.2	+	16	2072	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ACTN4_ENST00000424234.2_Nonsense_Mutation_p.Q276*|ACTN4_ENST00000390009.3_Nonsense_Mutation_p.Q447*	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	666					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCTGGATCCAGACCAAGAT	0.662000													23	38					0	0	0.001271	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179495596C>T	ENST00000589042.1	-	238	44313	c.44089G>A	c.(44089-44091)Gaa>Aaa	p.E14697K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN_ENST00000460472.2_Missense_Mutation_p.E5632K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13056	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGATTTCGGTTTCAAAG	0.493000													50	47					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405373	125405373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:125405373G>A	ENST00000431078.1	+	13	2276	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	638	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAACAATACAGAGCTGACCCG	0.547000													13	9					0	0	0.004007	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689789	189689789	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:189689789C>T	ENST00000319332.5	-	12	1904	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	LEPREL1_ENST00000427335.2_Silent_p.Q388Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	569	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCTTCTATCCTGCTGACCTG	0.473000													9	17					0	0	0.000978	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886268	144886268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:144886268G>A	ENST00000369359.4	-	26	3415	c.3377C>T	c.(3376-3378)tCc>tTc	p.S1126F	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1055F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S989F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1126F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S989F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	989					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGGAGGGGAAAAAGATGG	0.473000			T	PDGFRB	MPD								75	275					0	0	0.003610	0	0
OR1N2	138882	broad.mit.edu	37	9	125316283	125316283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:125316283C>T	ENST00000373688.2	+	1	893	c.835C>T	c.(835-837)Cct>Tct	p.P279S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTATTTACTTCCTCCATCAAC	0.463000													43	56					0	0	0.003214	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734201	16734201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrY:16734201G>A	ENST00000297967.5	+	1	301	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	68					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TGAGATCTTGGGTCCAGTGGA	0.527000													41	1					0	0	0.001485	0	0
EHMT1	79813	broad.mit.edu	37	9	140728854	140728854	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:140728854C>T	ENST00000460843.1	+	26	3621	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1198	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCAGCCGGTTCATCAACCACC	0.662000													10	21					0	0	0.000673	0	0
OR2A12	346525	broad.mit.edu	37	7	143793010	143793010	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:143793010G>A	ENST00000408949.2	+	1	870	c.810G>A	c.(808-810)agG>agA	p.R270R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGAACGGAGGAAGATCCTTT	0.527000													106	234					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179469580	179469580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179469580G>A	ENST00000589042.1	-	281	54460	c.54236C>T	c.(54235-54237)gCt>gTt	p.A18079V	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9206V|TTN_ENST00000460472.2_Missense_Mutation_p.A9014V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15511V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9139V|TTN_ENST00000591111.1_Missense_Mutation_p.A16438V|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16438	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGATTCAGCTTTAATGTC	0.423000													23	41					0	0	0.003330	0	0
AP2A1	160	broad.mit.edu	37	19	50303023	50303023	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:50303023C>T	ENST00000354293.5	+	10	1438	c.1272_splice	c.e10+1	p.I424_splice	AP2A1_ENST00000359032.5_Splice_Site_p.I424_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	424					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCGAGGAGATCGTGAGTGCTG	0.632000													8	9					0	0	0.000443	0	0
HYDIN	54768	broad.mit.edu	37	16	70917856	70917856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70917856G>A	ENST00000393567.2	-	59	10096	c.9946C>T	c.(9946-9948)Ctt>Ttt	p.L3316F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3316			L -> P (in dbSNP:rs1774331).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGTGTAAAGAATGCCGGCA	0.527000													22	33					0	0	0.001061	0	0
DNAH5	1767	broad.mit.edu	37	5	13901400	13901400	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:13901400C>T	ENST00000265104.4	-	14	2117	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCAAACTCCAGGAGGACCT	0.517000									Kartagener syndrome				41	26					0	0	0.003214	0	0
NRXN1	9378	broad.mit.edu	37	2	50280423	50280423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:50280423C>T	ENST00000404971.1	-	22	5573	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	NRXN1_ENST00000405472.3_Missense_Mutation_p.E1364K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1364K|NRXN1_ENST00000342183.5_Missense_Mutation_p.E307K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1342K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1372K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1342K|NRXN1_ENST00000401710.1_Missense_Mutation_p.E360K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1342	Poly-Ala.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTAATGGGTTCTTTTGTCGGG	0.438000													39	73					0	0	0.001951	0	0
USH2A	7399	broad.mit.edu	37	1	216496995	216496995	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:216496995C>T	ENST00000366943.2	-	8	1757	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	USH2A_ENST00000366942.3_Silent_p.L457L|USH2A_ENST00000307340.3_Silent_p.L457L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	457	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGTGTCAGGATGCTAA	0.363000										HNSCC(13;0.011)			31	79					0	0	0.004289	0	0
MYH1	4619	broad.mit.edu	37	17	10400471	10400471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10400471C>T	ENST00000226207.5	-	33	4665	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1524						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCGCTTTCCTCCTTCTGC	0.368000													24	43					0	0	0.002780	0	0
MYH2	4620	broad.mit.edu	37	17	10431131	10431131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10431131C>T	ENST00000245503.5	-	28	4189	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1269K|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1269					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTCCTCTTCCTTTGATTTC	0.488000													45	54					0	0	0.003610	0	0
MAG	4099	broad.mit.edu	37	19	35801484	35801484	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:35801484C>T	ENST00000361922.4	+	9	1704	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	MAG_ENST00000537831.2_Silent_p.G493G|MAG_ENST00000392213.3_Silent_p.G518G|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	518					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCTGTGGGCGCCGTGGTCG	0.587000													21	21					0	0	0.000878	0	0
PDE1C	5137	broad.mit.edu	37	7	32209531	32209531	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:32209531G>A	ENST00000396193.1	-	3	767	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGAGCCCATCGATGAGGGAGT	0.532000													123	72					0	0	0.003610	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:90398923C>T	ENST00000337338.5	+	3	703	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S99F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AACGACATTTCCTTTGGGACA	0.498000													10	4					0	0	0.000673	0	0
ACD	65057	broad.mit.edu	37	16	67694229	67694229	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:67694229G>A	ENST00000219251.8	-	1	484	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ACD_ENST00000393919.4_Silent_p.L51L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGGCCGGAGGAGGAGGCCCC	0.751000													6	2					0	0	0.001168	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666219	133666219	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:133666219G>A	ENST00000310926.4	-	9	1449	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	SLCO2A1_ENST00000493729.1_Silent_p.F316F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	392					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CTTGTAGAGAGAAAACAAAGC	0.507000													13	17					0	0	0.001855	0	0
CCDC80	151887	broad.mit.edu	37	3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:112356885C>T	ENST00000206423.3	-	2	2821	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_ENST00000439685.2_Missense_Mutation_p.R623Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	623										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463000													69	74					0	0	0.003610	0	0
CPED1	79974	broad.mit.edu	37	7	120739987	120739987	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:120739987A>G	ENST00000310396.5	+	7	1224	c.757A>G	c.(757-759)Acg>Gcg	p.T253A	CPED1_ENST00000423795.1_Missense_Mutation_p.T33A|CPED1_ENST00000450913.2_Missense_Mutation_p.T253A	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TAGGAATGAAACGACAGTCCT	0.378000													37	22					0	0	0.001951	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:33560122C>T	ENST00000228567.3	-	3	975	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_ENST00000535526.1_Missense_Mutation_p.E46K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000													22	46					0	0	0.002299	0	0
FCGBP	8857	broad.mit.edu	37	19	40398010	40398010	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40398010G>A	ENST00000221347.6	-	14	6964	c.6957C>T	c.(6955-6957)gcC>gcT	p.A2319A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCCCAGCGGCCTGACAGG	0.652000													20	86					0	0	0.003271	0	0
IQGAP3	128239	broad.mit.edu	37	1	156521554	156521554	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156521554G>A	ENST00000361170.2	-	15	1687	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	559					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCGACAGGGAGGCTGACAT	0.567000													23	22					0	0	0.000878	0	0
CD163	9332	broad.mit.edu	37	12	7640469	7640469	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:7640469G>A	ENST00000359156.4	-	7	1837	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	CD163_ENST00000541972.1_Silent_p.F533F|CD163_ENST00000432237.2_Silent_p.F545F|CD163_ENST00000396620.3_Silent_p.F545F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	545	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACTGGAATTCTTCAG	0.532000													29	34					0	0	0.001061	0	0
FAM193A	8603	broad.mit.edu	37	4	2661700	2661700	+	Missense_Mutation	SNP	C	C	T	rs140213757		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:2661700C>T	ENST00000324666.5	+	8	1142	c.791C>T	c.(790-792)tCg>tTg	p.S264L	FAM193A_ENST00000382839.3_Missense_Mutation_p.S264L|FAM193A_ENST00000545951.1_Missense_Mutation_p.S264L|FAM193A_ENST00000502458.1_Missense_Mutation_p.S288L|FAM193A_ENST00000505311.1_Missense_Mutation_p.S264L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	264										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TCTGCAAGCTCGGGGTCCGGC	0.547000													13	24					0	0	0.001855	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812857	45812857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:45812857C>T	ENST00000358525.4	-	6	902	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SLC6A20_ENST00000353278.4_Missense_Mutation_p.A226T|SLC6A20_ENST00000456124.2_Missense_Mutation_p.A263T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	263					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTGTAGCTGGCGAAGGCGATC	0.552000													41	43					0	0	0.001485	0	0
AMPH	273	broad.mit.edu	37	7	38574543	38574543	+	Silent	SNP	G	G	A	rs140832560	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:38574543G>A	ENST00000356264.2	-	2	353	c.138C>T	c.(136-138)ttC>ttT	p.F46F	AMPH_ENST00000325590.5_Silent_p.F46F|AMPH_ENST00000428293.2_Silent_p.F46F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	46	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTGCCGTTTGAAGTTCTGGA	0.338000													26	62					0	0	0.001512	0	0
TNC	3371	broad.mit.edu	37	9	117853196	117853196	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:117853196C>T	ENST00000350763.4	-	2	513	c.102G>A	c.(100-102)caG>caA	p.Q34Q	TNC_ENST00000535648.1_Silent_p.Q34Q|TNC_ENST00000345230.3_Silent_p.Q34Q|TNC_ENST00000340094.3_Silent_p.Q34Q|TNC_ENST00000537320.1_Silent_p.Q34Q|TNC_ENST00000341037.4_Silent_p.Q34Q|TNC_ENST00000346706.3_Silent_p.Q34Q|TNC_ENST00000542877.1_Silent_p.Q34Q|TNC_ENST00000423613.2_Silent_p.Q34Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	34					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						TCACCCCACTCTGTCGCTTGT	0.562000													21	27					0	0	0.002299	0	0
C10orf12	26148	broad.mit.edu	37	10	98743303	98743303	+	Missense_Mutation	SNP	C	C	T	rs142303354	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:98743303C>T	ENST00000286067.2	+	1	2263	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	719										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCACCAAAATCGGTGCCAAGG	0.483000													27	3					0	0	0.001271	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83351247	83351247	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:83351247G>A	ENST00000262752.2	-	20	1933	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.F642F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	642	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CACTCAAAGAGAATTTTCCAT	0.348000													37	2					0	0	0.001485	0	0
PROM2	150696	broad.mit.edu	37	2	95947945	95947945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:95947945G>A	ENST00000317620.9	+	14	1832	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	PROM2_ENST00000317668.4_Missense_Mutation_p.D567N|PROM2_ENST00000403131.2_Missense_Mutation_p.D567N|PROM2_ENST00000542147.1_Missense_Mutation_p.D567N	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	567						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGACTCCTACGACCTGGAGGA	0.592000													10	13					0	0	0.001368	0	0
JUN	3725	broad.mit.edu	37	1	59248633	59248633	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:59248633C>A	ENST00000371222.2	-	1	1152	c.110G>T	c.(109-111)aGc>aTc	p.S37I		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	37					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CAGGGTCATGCTCTGTTTCAG	0.607000			A		sarcoma								55	61					1.95512e-22	7.36196e-22	0.003610	1	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:55540733G>A	ENST00000220676.1	+	4	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000													12	27					0	0	0.002450	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177402	39177402	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:39177402G>A	ENST00000297668.6	-	6	913	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CNTNAP3_ENST00000377659.1_Silent_p.L280L|CNTNAP3_ENST00000377656.2_Silent_p.L280L|CNTNAP3_ENST00000358144.2_Silent_p.L192L|CNTNAP3_ENST00000323947.7_Silent_p.L280L|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	280	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTGCGTGTCGAGGAGCTCGA	0.498000													42	6					0	0	0.002222	0	0
CCDC3	83643	broad.mit.edu	37	10	12940435	12940435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:12940435G>A	ENST00000378839.1	-	7	1371	c.419C>T	c.(418-420)cCc>cTc	p.P140L	CCDC3_ENST00000378825.3_Missense_Mutation_p.P265L			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	265						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CAGGTAGGGGGGGCGCACGGG	0.642000													11	2					0	0	0.000978	0	0
GPR98	84059	broad.mit.edu	37	5	89970009	89970009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:89970009G>A	ENST00000405460.2	+	23	5164	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1690					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGAAAAGGAAACGACTGA	0.423000													9	4					0	0	0.000673	0	0
SP100	6672	broad.mit.edu	37	2	231406079	231406079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:231406079C>T	ENST00000340126.4	+	27	2426	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CGCCTCAGAACCGTATTATGT	0.393000													20	23					0	0	0.001523	0	0
CHD9	80205	broad.mit.edu	37	16	53340242	53340242	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:53340242A>G	ENST00000566029.1	+	32	6922	c.6713A>G	c.(6712-6714)aAt>aGt	p.N2238S	CHD9_ENST00000564845.1_Missense_Mutation_p.N2238S|CHD9_ENST00000398510.3_Missense_Mutation_p.N2238S|CHD9_ENST00000447540.1_Missense_Mutation_p.N2239S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2238					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGATGAACAATGGGACACCA	0.423000													21	29					0	0	0.002780	0	0
DLG2	1740	broad.mit.edu	37	11	83170956	83170956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:83170956C>T	ENST00000398309.2	-	23	2988	c.2518G>A	c.(2518-2520)Gga>Aga	p.G840R	DLG2_ENST00000543673.1_Missense_Mutation_p.G945R|DLG2_ENST00000532653.1_Missense_Mutation_p.G822R|DLG2_ENST00000376106.3_Missense_Mutation_p.G304R|DLG2_ENST00000376104.2_Missense_Mutation_p.G945R|DLG2_ENST00000330014.6_Missense_Mutation_p.G761R|DLG2_ENST00000418306.2_Missense_Mutation_p.G719R|DLG2_ENST00000280241.8_Missense_Mutation_p.G879R|DLG2_ENST00000524982.1_Missense_Mutation_p.G836R|DLG2_ENST00000426717.2_Missense_Mutation_p.G304R|DLG2_ENST00000537455.1_Missense_Mutation_p.G590R|DLG2_ENST00000404783.3_Missense_Mutation_p.G318R	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	840	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAGTATCTCCTTGGACAATA	0.358000													41	3					0	0	0.001485	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213851	42213851	+	Missense_Mutation	SNP	C	C	T	rs150911810	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:42213851C>T	ENST00000221992.6	+	2	431	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CEA_ENST00000598976.1_Missense_Mutation_p.S106F|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S106F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S106F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	106	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAATGCATCCCTGCTGATC	0.468000													53	99					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192399	132192399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:132192399C>T	ENST00000359827.3	-	2	2016	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PLXNA4_ENST00000378539.5_Missense_Mutation_p.E352K|PLXNA4_ENST00000423507.2_Missense_Mutation_p.E352K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.E352K			Q9HCM2	PLXA4_HUMAN	plexin A4	352	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGGCCGACTCATCCAGGGAT	0.577000													47	25					0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													5	34					0	0	0.000602	0	0
MIR520G	574484	broad.mit.edu	37	19	54225433	54225433	+	RNA	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:54225433C>T	ENST00000385064.1	+	0	14					NR_030206.1																						CATGCTGTGACCCTCTAGAGG	0.408000													34	64					0	0	0.000954	0	0
ACSF3	197322	broad.mit.edu	37	16	89167527	89167527	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:89167527C>T	ENST00000317447.4	+	3	815	c.438C>T	c.(436-438)gtC>gtT	p.V146V	ACSF3_ENST00000406948.3_Silent_p.V146V|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	146					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCTCTGTGGTCCTTGCCAGCC	0.642000													30	19					0	0	0.001271	0	0
ITIH3	3699	broad.mit.edu	37	3	52836375	52836375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:52836375C>T	ENST00000449956.2	+	12	1415	c.1409C>T	c.(1408-1410)cCa>cTa	p.P470L	ITIH3_ENST00000416872.2_Missense_Mutation_p.P470L	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	470					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGGCCAACCCACTGCTGACG	0.592000													11	22					0	0	0.004007	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521099	86521099	+	Missense_Mutation	SNP	C	C	T	rs117082571	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:86521099C>T	ENST00000450689.2	-	21	3156	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E751K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E920K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E824K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	991						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATACAACTTCCTCTTCATTA	0.378000													53	31					0	0	0.003610	0	0
NOL8	55035	broad.mit.edu	37	9	95062242	95062242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:95062242G>A	ENST00000545558.1	-	14	3724	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	NOL8_ENST00000358855.4_Missense_Mutation_p.R1010C|NOL8_ENST00000542053.1_Missense_Mutation_p.R1010C|NOL8_ENST00000442668.2_Missense_Mutation_p.R1078C|NOL8_ENST00000535387.1_Missense_Mutation_p.R1040C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1078					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGTAAACGAGGGTCTTCC	0.413000													116	140					0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51173572	51173572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:51173572G>A	ENST00000440970.1	-	2	2701	c.2270C>T	c.(2269-2271)tCg>tTg	p.S757L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S854L|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	854					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGCAAAGGCGAAGAGGATAA	0.517000													50	47					0	0	0.003610	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819252	12819252	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:12819252A>G	ENST00000379672.5	+	5	611	c.311A>G	c.(310-312)aAg>aGg	p.K104R	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.K104R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.K104R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	104	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACGGAGGACAAGCTGGCTCAG	0.493000													13	14					0	0	0.001855	0	0
PRKDC	5591	broad.mit.edu	37	8	48740752	48740752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:48740752G>A	ENST00000314191.2	-	63	8607	c.8551C>T	c.(8551-8553)Cca>Tca	p.P2851S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P2851S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2852	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAAAGGGTGGAAAGAAAGAG	0.363000								Non-homologous end-joining					16	28					0	0	0.000566	0	0
BRICD5	283870	broad.mit.edu	37	16	2259370	2259370	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:2259370G>T	ENST00000328540.3	-	6	1796	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	MLST8_ENST00000564088.1_3'UTR|MLST8_ENST00000382450.4_3'UTR|MLST8_ENST00000569417.1_3'UTR|MLST8_ENST00000301725.7_3'UTR|BRICD5_ENST00000562360.1_Missense_Mutation_p.P259Q|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000397124.1_3'UTR	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		GGCTCAGTCTGGGAGGTAATA	0.627000													28	22					2.80507e-11	1.05033e-10	0.002445	1	0
PDE4B	5142	broad.mit.edu	37	1	66379000	66379000	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:66379000G>A	ENST00000329654.4	+	2	190	c.3G>A	c.(1-3)atG>atA	p.M1I	PDE4B_ENST00000371049.3_Start_Codon_SNP_p.M1I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	1					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTCTATAATGAAGAAAAGCA	0.368000													23	36					0	0	0.000721	0	0
CXXC11	285093	broad.mit.edu	37	2	242814966	242814966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:242814966C>T	ENST00000343216.3	+	2	1287	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	420						integral to membrane											GTCAAGGGCTCCCTTGCCCTC	0.632000													12	15					0	0	0.001368	0	0
HECW2	57520	broad.mit.edu	37	2	197298137	197298137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:197298137G>A	ENST00000260983.2	-	2	193	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	4					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCCCGGGCTGAACTAGCCAT	0.512000													14	21					0	0	0.003163	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711283	155711283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:155711283C>T	ENST00000295101.2	+	3	1441	c.964C>T	c.(964-966)Ctt>Ttt	p.L322F	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	322					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGATGAAGTTCTTTGGGGTCA	0.383000													26	52					0	0	0.002096	0	0
TMEM144	55314	broad.mit.edu	37	4	159136446	159136446	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:159136446G>A	ENST00000514558.1	+	3	2009	c.213G>A	c.(211-213)ggG>ggA	p.G71G	TMEM144_ENST00000296529.6_Silent_p.G71G			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	71						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAATGCTTGGGGGCTGCATTT	0.378000													40	28					0	0	0.001706	0	0
NOVA1	4857	broad.mit.edu	37	14	26917477	26917477	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:26917477G>A	ENST00000539517.2	-	5	1529	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	NOVA1_ENST00000267422.7_Silent_p.P282P|NOVA1_ENST00000465357.2_Silent_p.P380P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	407	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGCAGCTAGGGGAGAAGCAG	0.502000													23	3					0	0	0.001061	0	0
PTPRN2	5799	broad.mit.edu	37	7	158109571	158109571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:158109571C>T	ENST00000389413.3	-	3	320	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PTPRN2_ENST00000389416.4_Missense_Mutation_p.E56K|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E96K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E73K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	73						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCGACACCTCGTAGCGGTAA	0.607000													31	10					0	0	0.001111	0	0
PSKH2	85481	broad.mit.edu	37	8	87060806	87060806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:87060806G>A	ENST00000276616.2	-	3	1117	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	348							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGGACTCTGAGAGTGGGGAGA	0.507000													38	39					0	0	0.001111	0	0
SSTR3	6753	broad.mit.edu	37	22	37602745	37602745	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:37602745C>T	ENST00000328544.3	-	2	1631	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	SSTR3_ENST00000402501.1_Silent_p.K366K	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	366					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TCTCCTTCCCCTTGCCCCCCT	0.697000													14	13					0	0	0.001855	0	0
OR1B1	347169	broad.mit.edu	37	9	125391601	125391601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:125391601C>T	ENST00000304833.3	-	1	251	c.214G>A	c.(214-216)Gac>Aac	p.D72N	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGCCCCATGTCTATCACAGAG	0.532000													18	16					0	0	0.000958	0	0
MYH8	4626	broad.mit.edu	37	17	10312618	10312618	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:10312618G>A	ENST00000403437.2	-	16	1969	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	625	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGCATACGTGGAAAAGAGAC	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	45					0	0	0.004289	0	0
ADAM18	8749	broad.mit.edu	37	8	39495113	39495113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:39495113G>A	ENST00000265707.5	+	9	763	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.E216K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	240	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTGGTCAAATGAAAACCAGAT	0.358000													27	23					0	0	0.000878	0	0
GHR	2690	broad.mit.edu	37	5	42718154	42718154	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:42718154G>A	ENST00000230882.4	+	9	1066	c.875_splice	c.e9-1	p.R292_splice	GHR_ENST00000357703.3_Splice_Site_p.R270_splice|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Splice_Site_p.R105_splice	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	292					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTTTTCAAGGATTAAAATGC	0.289000													36	28					0	0	0.002222	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905009	32905009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:32905009C>T	ENST00000416244.2	-	3	756	c.562G>A	c.(562-564)Gac>Aac	p.D188N	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.D188N			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	188	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGTAAGTGTCCCCGTAAGAG	0.552000													32	39					0	0	0.001786	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389314	76389314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:76389314G>A	ENST00000307431.8	+	4	678	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G102E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G74E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G98E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	99	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G74E(2)|p.G98E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTCAAGGGGGATATGGTAGC	0.522000													33	36					0	0	0.003755	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004826	20004826	+	Silent	SNP	G	G	A	rs17215766	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:20004826G>A	ENST00000440926.1	-	16	1877	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Silent_p.I437I|SLC18A1_ENST00000519026.1_Silent_p.I437I|SLC18A1_ENST00000276373.5_Silent_p.I469I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	469					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GAGCATAGACGATGTTGATGA	0.512000													15	21					0	0	0.004007	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719781	111719781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:111719781G>A	ENST00000393917.2	+	3	895	c.343G>A	c.(343-345)Gat>Aat	p.D115N	TAGLN3_ENST00000478951.1_Missense_Mutation_p.D115N|TAGLN3_ENST00000486460.1_Missense_Mutation_p.D31N|TAGLN3_ENST00000455401.2_Missense_Mutation_p.D115N|TAGLN3_ENST00000273368.4_Missense_Mutation_p.D115N	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	115	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TCAGACGGTGGATCTATGGGA	0.478000													54	91					0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665929	8665929	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:8665929C>T	ENST00000270328.4	-	5	959	c.693G>A	c.(691-693)ctG>ctA	p.L231L	ADAMTS10_ENST00000597188.1_Silent_p.L231L|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	231					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCGATCGCTTCAGGCCTGGCT	0.637000													33	31					0	0	0.004289	0	0
EPB41L3	23136	broad.mit.edu	37	18	5395630	5395630	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:5395630G>C	ENST00000341928.2	-	20	3390	c.3050C>G	c.(3049-3051)aCc>aGc	p.T1017S	EPB41L3_ENST00000342933.3_Missense_Mutation_p.T1017S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T795S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T795S|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T322S|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T314S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T848S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1017	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGTAGTGGTGGTGGTACTGGT	0.537000													78	11					0	0	0.003610	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680538	9680538	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:9680538C>T	ENST00000330255.4	-	4	558	c.546G>A	c.(544-546)ggG>ggA	p.G182G	DHRS7C_ENST00000571134.1_Silent_p.G181G	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	182						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCAAACTTCCCTTGGATAT	0.413000													19	17					0	0	0.002299	0	0
NUP210L	91181	broad.mit.edu	37	1	154067551	154067551	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:154067551T>C	ENST00000368559.3	-	15	2118	c.2047A>G	c.(2047-2049)Atc>Gtc	p.I683V	NUP210L_ENST00000271854.3_Missense_Mutation_p.I683V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	683						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCTCCAAGATCCATGGACGA	0.438000													29	34					0	0	0.001271	0	0
TXK	7294	broad.mit.edu	37	4	48116367	48116367	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:48116367C>T	ENST00000264316.4	-	2	154	c.69G>A	c.(67-69)aaG>aaA	p.K23K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	23						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGACTTACCGCTTCTGCACTG	0.433000													23	21					0	0	0.002780	0	0
CUX2	23316	broad.mit.edu	37	12	111746297	111746297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:111746297C>T	ENST00000261726.6	+	14	1379	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	409						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGAAATTCCTTCTGGAGAA	0.617000													10	4					0	0	0.001368	0	0
SETD1A	9739	broad.mit.edu	37	16	30976141	30976141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:30976141C>T	ENST00000262519.8	+	7	1764	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	360	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ctcTCAGTTTCGTAGTTCTGA	0.587000													67	99					0	0	0.003610	0	0
ASUN	55726	broad.mit.edu	37	12	27067474	27067474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:27067474G>A	ENST00000261191.7	-	12	1822	c.1286C>T	c.(1285-1287)cCt>cTt	p.P429L	ASUN_ENST00000539625.1_Missense_Mutation_p.P328L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	429					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GTCTAGAAAAGGAGTTAATCT	0.348000													12	19					0	0	0.001855	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432890	111432890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:111432890C>T	ENST00000393934.3	+	3	1351	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Y|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCTCCTTCCATGTCTCCCA	0.557000													19	28					0	0	0.000958	0	0
C1orf173	127254	broad.mit.edu	37	1	75037439	75037439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:75037439C>T	ENST00000326665.5	-	14	4173	c.3955G>A	c.(3955-3957)Gac>Aac	p.D1319N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1319	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCATGTCCCCGTCCCCT	0.557000													38	39					0	0	0.003610	0	0
ZNF23	7571	broad.mit.edu	37	16	71482512	71482512	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:71482512C>T	ENST00000393539.2	-	6	2229	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.G414G|ZNF23_ENST00000357254.4_Silent_p.G472G|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.G414G|ZNF23_ENST00000417828.1_Silent_p.G472G|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGTTTCTCCCCAGTGTGAA	0.428000													14	29					0	0	0.003163	0	0
FLG2	388698	broad.mit.edu	37	1	152329048	152329048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:152329048G>A	ENST00000388718.5	-	3	1286	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	405	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAGAGTTTGAAAAGCGGCC	0.433000													34	46					0	0	0.003271	0	0
C3orf67	200844	broad.mit.edu	37	3	58849474	58849474	+	Missense_Mutation	SNP	T	T	G	rs112633530		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:58849474T>G	ENST00000472469.1	-	11	1587	c.749A>C	c.(748-750)gAg>gCg	p.E250A	C3orf67_ENST00000482387.1_Missense_Mutation_p.E343A|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.E343A|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	343										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGGGATTCCTCTGCCTGCTG	0.512000													57	79					0	0	0.003610	0	0
C15orf32	145858	broad.mit.edu	37	15	93043589	93043589	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:93043589G>A	ENST00000333334.2	+	3	991	c.494_splice	c.e3-1	p.E166_splice	C15orf32_ENST00000556865.1_3'UTR	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	166										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CCTTTTTAGGGAACATTTAAT	0.473000													40	56					0	0	0.002852	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066929	18066929	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:18066929G>A	ENST00000506618.2	-	1	557	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	159					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCACTCAGGGATATTCTCCC	0.453000													31	72					0	0	0.002836	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882929	228882929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:228882929G>A	ENST00000392056.3	-	7	2687	c.2641C>T	c.(2641-2643)Cca>Tca	p.P881S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	881						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGGTGTTTGGGTGGATACTC	0.517000													65	95					0	0	0.003610	0	0
UTS2	10911	broad.mit.edu	37	1	7913039	7913039	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:7913039A>C	ENST00000377516.2	-	2	345	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V	UTS2_ENST00000361696.5_Missense_Mutation_p.L9V|UTS2_ENST00000054668.5_Intron			O95399	UTS2_HUMAN	urotensin 2	9					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		ATGAAAAGCAAACAGCAGGAG	0.428000													42	38					0	0	0.001287	0	0
OR2T10	127069	broad.mit.edu	37	1	248756492	248756492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248756492G>A	ENST00000330500.2	-	1	608	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTGTAAAGTGAGGTGTCTGA	0.463000													29	48					0	0	0.001061	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332583	22332583	+	RNA	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:22332583C>T	ENST00000558896.1	+	0	390																											GCTCCAATCTCCTATGTATTA	0.393000													51	244					0	0	0.003610	0	0
LGALS12	85329	broad.mit.edu	37	11	63276333	63276333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:63276333C>T	ENST00000415491.2	+	2	739	c.125C>T	c.(124-126)aCc>aTc	p.T42I	LGALS12_ENST00000255684.5_Missense_Mutation_p.T103I|LGALS12_ENST00000425950.2_Missense_Mutation_p.T42I|LGALS12_ENST00000394618.3_Missense_Mutation_p.T103I|LGALS12_ENST00000340246.5_Missense_Mutation_p.T104I	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	103					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TTCCATACCACCAAGCCCCAT	0.622000													50	5					0	0	0.003610	0	0
UPK3B	80761	broad.mit.edu	37	7	76144447	76144447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:76144447C>T	ENST00000419923.2	+	4	1067	c.842C>T	c.(841-843)cCc>cTc	p.P281L	UPK3B_ENST00000394849.1_Missense_Mutation_p.P226L|UPK3B_ENST00000257632.5_Missense_Mutation_p.P281L|UPK3B_ENST00000443097.2_Missense_Mutation_p.P253S|UPK3B_ENST00000334348.3_Missense_Mutation_p.P253S|UPK3B_ENST00000448265.3_Missense_Mutation_p.P281L			Q9BT76	UPK3B_HUMAN	uroplakin 3B	281					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CCACCACATCCCACCCAGAGA	0.706000													6	8					0	0	0.001168	0	0
TSPAN13	27075	broad.mit.edu	37	7	16816728	16816728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:16816728C>T	ENST00000262067.4	+	3	726	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	98						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTTGTTTAGCCCTGAACCAG	0.313000													52	52					0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	69046338	69046338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:69046338C>T	ENST00000288368.4	+	32	4088	c.3811C>T	c.(3811-3813)Ctt>Ttt	p.L1271F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1271					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGCCAGACTCTTGTGGCCAC	0.468000													36	37					0	0	0.001287	0	0
NCOR1	9611	broad.mit.edu	37	17	15960834	15960834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:15960834C>T	ENST00000268712.3	-	40	6643	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K	NCOR1_ENST00000395851.1_Missense_Mutation_p.R2026K|NCOR1_ENST00000395857.3_Missense_Mutation_p.R713K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2129	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATACCTTCCCCTGGATTTGTC	0.378000													54	69					0	0	0.003610	0	0
CSPG4	1464	broad.mit.edu	37	15	75979994	75979994	+	Missense_Mutation	SNP	G	G	A	rs142931023	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:75979994G>A	ENST00000308508.5	-	3	3504	c.3412C>T	c.(3412-3414)Cct>Tct	p.P1138S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1138	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCCTTGAGGGACCACAAGG	0.662000													24	54					0	0	0.001061	0	0
RNF165	494470	broad.mit.edu	37	18	44030303	44030303	+	Silent	SNP	C	C	T	rs146872731		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:44030303C>T	ENST00000269439.7	+	5	711	c.660C>T	c.(658-660)ttC>ttT	p.F220F	RNF165_ENST00000543885.1_Silent_p.F28F	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	220							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AGCTTCACTTCCTTGCTCTCC	0.517000													27	1					0	0	0.001512	0	0
DHRS7B	25979	broad.mit.edu	37	17	21081617	21081617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:21081617G>A	ENST00000395511.3	+	3	591	c.271G>A	c.(271-273)Gag>Aag	p.E91K	DHRS7B_ENST00000579303.1_Missense_Mutation_p.E76K	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	91						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGCCCTAGAAGAGCTCATCAG	0.557000													29	36					0	0	0.002836	0	0
ZNF160	90338	broad.mit.edu	37	19	53572698	53572698	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:53572698A>T	ENST00000601421.1	-	3	1857	c.981T>A	c.(979-981)caT>caA	p.H327Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.H363Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.H363Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.H363Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	363					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCTCCAGTATGAATTAACT	0.388000													45	40					0	0	0.002222	0	0
NOD2	64127	broad.mit.edu	37	16	50744939	50744939	+	Missense_Mutation	SNP	C	C	T	rs145293873		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:50744939C>T	ENST00000300589.2	+	4	1222	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	373	NACHT.		R -> C (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCACCCTGACCGTGTCCTGTT	0.542000													22	33					0	0	0.003330	0	0
GPR112	139378	broad.mit.edu	37	X	135433683	135433683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:135433683G>A	ENST00000394143.1	+	7	7096	c.6805G>A	c.(6805-6807)Gaa>Aaa	p.E2269K	GPR112_ENST00000412101.1_Missense_Mutation_p.E2064K|GPR112_ENST00000394141.1_Missense_Mutation_p.E2064K|GPR112_ENST00000370652.1_Missense_Mutation_p.E2269K|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2269					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTTATAAATGAATTTACGGA	0.264000													50	1					0	0	0.003610	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374842	113374842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:113374842G>A	ENST00000316407.4	-	7	6097	c.5687C>T	c.(5686-5688)cCt>cTt	p.P1896L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1896L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1896					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACTTGAAAAAGGAATATTCAA	0.408000													36	46					0	0	0.003755	0	0
KLHL32	114792	broad.mit.edu	37	6	97562260	97562260	+	Missense_Mutation	SNP	G	G	A	rs150244885		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:97562260G>A	ENST00000369261.4	+	7	1592	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KLHL32_ENST00000539200.1_Missense_Mutation_p.R341H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R374H|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	410										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AATGAACTGCGCCAGGTTCTG	0.498000													20	26					0	0	0.001523	0	0
ZNF616	90317	broad.mit.edu	37	19	52619486	52619486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:52619486G>A	ENST00000600228.1	-	4	1192	c.931C>T	c.(931-933)Cat>Tat	p.H311Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTCTAAGATGGACACGCTGA	0.408000													23	49					0	0	0.003330	0	0
ETS2	2114	broad.mit.edu	37	21	40190402	40190402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:40190402G>A	ENST00000360214.3	+	8	1103	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	ETS2_ENST00000360938.3_Missense_Mutation_p.G215S	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	215					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTACCCCAAAGGCGGCCTCCT	0.562000													65	7					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82457228	82457228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:82457228C>T	ENST00000423517.2	-	17	14641	c.14304G>A	c.(14302-14304)tgG>tgA	p.W4768*	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Nonsense_Mutation_p.W4768*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTTTGATTCCACTCAGGAT	0.333000													20	18					0	0	0.002780	0	0
ILDR1	286676	broad.mit.edu	37	3	121712361	121712361	+	Missense_Mutation	SNP	G	G	A	rs144533401		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:121712361G>A	ENST00000273691.3	-	6	1208	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	ILDR1_ENST00000462014.1_Missense_Mutation_p.P380L|ILDR1_ENST00000393631.1_Missense_Mutation_p.P323L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.P412L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	412						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCAGTGTATGGGTGACCCATT	0.612000													13	16					0	0	0.001855	0	0
TMEM74	157753	broad.mit.edu	37	8	109797321	109797321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:109797321G>A	ENST00000297459.3	-	2	185	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	3					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGGTAGTGGAGCTCCATGAGA	0.527000													19	19					0	0	0.001523	0	0
FUT4	2526	broad.mit.edu	37	11	94278312	94278312	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr11:94278312A>C	ENST00000358752.2	+	1	1296	c.1013A>C	c.(1012-1014)cAc>cCc	p.H338P		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	338					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCAGAAGCCACCCCGGCGAC	0.672000													7	16					0	0	0.001984	0	0
CELA3A	10136	broad.mit.edu	37	1	22328198	22328198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:22328198C>T	ENST00000290122.3	+	1	50	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	CELA3A_ENST00000374663.1_Missense_Mutation_p.L11F	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCCCTCCTCCTTGTGGCCGT	0.547000													98	103					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130285721	130285721	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:130285721G>A	ENST00000358511.6	+	4	1489	c.1458G>A	c.(1456-1458)ttG>ttA	p.L486L	COL6A6_ENST00000453409.2_Silent_p.L486L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	486	Nonhelical region.|VWFA 3.				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						GCTGGGACTTGGAATTTGAGA	0.483000													61	56					0	0	0.003610	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540276	40540276	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:40540276G>A	ENST00000434248.1	-	5	2555	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	ZNF780B_ENST00000221355.6_Silent_p.F682F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCCAAGTATGAATTTTCTGA	0.378000													17	25					0	0	0.000743	0	0
RBM17	84991	broad.mit.edu	37	10	6154272	6154272	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:6154272G>A	ENST00000446108.1	+	8	1448	c.804G>A	c.(802-804)gaG>gaA	p.E268E	RBM17_ENST00000379888.4_Silent_p.E268E	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	268	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGTCAGTGGAGAAGACCAGCA	0.622000													28	3					0	0	0.001271	0	0
PDZD8	118987	broad.mit.edu	37	10	119044302	119044302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:119044302G>A	ENST00000334464.5	-	5	2181	c.1942C>T	c.(1942-1944)Cct>Tct	p.P648S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	648					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AATTGCTTAGGTGCAGCTGCA	0.458000													33	8					0	0	0.001786	0	0
SOGA3	387104	broad.mit.edu	37	6	127796803	127796803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:127796803G>A	ENST00000556132.1	-	6	3232	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C	SOGA3_ENST00000368268.2_Missense_Mutation_p.R790C|SOGA3_ENST00000481848.2_Missense_Mutation_p.R790C|SOGA3_ENST00000525778.1_Missense_Mutation_p.R790C|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.R790C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	790						integral to membrane		p.R790C(1)									GTGAGGCAGCGGATGTTGCGC	0.701000													21	21					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179650817	179650817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:179650817C>T	ENST00000589042.1	-	14	2352	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	TTN_ENST00000360870.5_Missense_Mutation_p.D710N|TTN_ENST00000342175.6_Missense_Mutation_p.D664N|TTN_ENST00000460472.2_Missense_Mutation_p.D664N|TTN_ENST00000342992.6_Missense_Mutation_p.D710N|TTN_ENST00000359218.5_Missense_Mutation_p.D664N|TTN_ENST00000591111.1_Missense_Mutation_p.D710N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	710							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGCCTGGTCTACTGCAGCA	0.493000													23	20					0	0	0.003330	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120030	142120030	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr7:142120030G>A	ENST00000390377.1	-	0	136																											TGCATGACTCGAAATTGGATC	0.493000													42	21					0	0	0.002522	0	0
TRDN	10345	broad.mit.edu	37	6	123539823	123539823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:123539823G>A	ENST00000334268.4	-	40	2406	c.2089C>T	c.(2089-2091)Cct>Tct	p.P697S	TRDN_ENST00000398178.3_Missense_Mutation_p.P705S			Q13061	TRDN_HUMAN	triadin	705					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GGAGTGAAAGGAAACTGAAAT	0.458000													13	13					0	0	0.001368	0	0
LRRN2	10446	broad.mit.edu	37	1	204587039	204587039	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:204587039C>T	ENST00000367175.1	-	1	4294	c.2082G>A	c.(2080-2082)agG>agA	p.R694R	LRRN2_ENST00000367176.3_Silent_p.R694R|LRRN2_ENST00000367177.3_Silent_p.R694R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	694					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGGCAGCTTCCTCCCTGGAT	0.582000													41	109					0	0	0.003610	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306319	239306319	+	Splice_Site	SNP	A	A	G			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:239306319A>G	ENST00000373327.4	+	16	2131	c.1910_splice	c.e16+1	p.R637_splice	TRAF3IP1_ENST00000391993.3_Splice_Site_p.R571_splice|TRAF3IP1_ENST00000391994.2_Splice_Site_p.R637_splice	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	637	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCAGGAGCAGAGGTGGGGGGT	0.642000													19	19					0	0	0.001216	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27811782	27811782	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:27811782G>A	ENST00000228425.6	+	10	1077		c.e10+1		PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Intron|PPFIBP1_ENST00000318304.8_Intron	NM_003622.3	NP_003613.3	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAAGAAAAAAGTAAGGTTTGG	0.318000													27	36					0	0	0.001786	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895621	24895621	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:24895621G>A	ENST00000382071.2	+	4	802	c.717G>A	c.(715-717)ggG>ggA	p.G239G	C1QTNF9_ENST00000332018.4_Silent_p.G239G|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	239	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CAGCAGCGGGGAAATTCACGT	0.418000													54	89					0	0	0.003610	0	0
SPTLC3	55304	broad.mit.edu	37	20	13055077	13055077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr20:13055077C>T	ENST00000399002.2	+	4	813	c.539C>T	c.(538-540)tCt>tTt	p.S180F	SPTLC3_ENST00000378194.4_Missense_Mutation_p.S180F	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	180					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TATGATGAGTCTATGAGGACA	0.428000													50	55					0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr9:119158837G>T	ENST00000328252.3	+	22	5195	c.4826G>T	c.(4825-4827)cGg>cTg	p.R1609L	PAPPA_ENST00000534838.1_Missense_Mutation_p.R647L|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517000													69	89					2.0493e-37	7.74565e-37	0.003610	1	0
CMYA5	202333	broad.mit.edu	37	5	79031658	79031658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:79031658G>A	ENST00000446378.2	+	2	7101	c.7070G>A	c.(7069-7071)tGg>tAg	p.W2357*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2357						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCATCTAAATGGAATATTTCT	0.373000													15	5					0	0	0.002450	0	0
WDR75	84128	broad.mit.edu	37	2	190328664	190328664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:190328664C>T	ENST00000314761.4	+	11	1150	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	364						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTATTCTCTCCAGAGTGATAA	0.358000													26	30					0	0	0.000721	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr21:42080489G>A	ENST00000400454.1	-	2	729	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000													36	7					0	0	0.003755	0	0
PRKD2	25865	broad.mit.edu	37	19	47197356	47197356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:47197356G>A	ENST00000433867.1	-	11	1829	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	PRKD2_ENST00000601806.1_Missense_Mutation_p.S294F|PRKD2_ENST00000600194.1_Missense_Mutation_p.S294F|PRKD2_ENST00000595515.1_Missense_Mutation_p.S451F|PRKD2_ENST00000291281.4_Missense_Mutation_p.S451F	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	451	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTTCTGGGCGGACTCCACCGT	0.587000													19	34					0	0	0.002780	0	0
BAZ2B	29994	broad.mit.edu	37	2	160268984	160268984	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:160268984T>C	ENST00000392783.2	-	14	3034	c.2539A>G	c.(2539-2541)Aga>Gga	p.R847G	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R813G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R811G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R747G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	847	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTGGTGGTCTTCCTCTACGA	0.418000													15	18					0	0	0.002450	0	0
AARS	16	broad.mit.edu	37	16	70302194	70302194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:70302194C>T	ENST00000261772.8	-	8	1194	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	351					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ACGACAACATCCACTAACGTA	0.502000													19	19					0	0	0.000958	0	0
ADAD1	132612	broad.mit.edu	37	4	123350868	123350868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:123350868C>T	ENST00000296513.2	+	13	1890	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	ADAD1_ENST00000388725.2_Missense_Mutation_p.P551S|ADAD1_ENST00000388724.2_Missense_Mutation_p.P558S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	569	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTGAAATCTCCCTGCATAGA	0.333000													31	54					0	0	0.002445	0	0
F13A1	2162	broad.mit.edu	37	6	6174883	6174883	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:6174883G>A	ENST00000264870.3	-	12	1942	c.1677C>T	c.(1675-1677)acC>acT	p.T559T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	559					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTGTAGAAGGTGATGTTGG	0.502000													38	62					0	0	0.004289	0	0
DKK1	22943	broad.mit.edu	37	10	54076090	54076090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:54076090G>A	ENST00000373970.3	+	3	581	c.442G>A	c.(442-444)Gga>Aga	p.G148R	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	148					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCATTTCCGAGGAGAAATTGA	0.393000													23	0					0	0	0.002299	0	0
DOCK3	1795	broad.mit.edu	37	3	51267025	51267025	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:51267025G>A	ENST00000266037.9	+	19	1925	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	634	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATGTCAGTGGGGAGGAAATTG	0.463000													17	22					0	0	0.000958	0	0
LRP1B	53353	broad.mit.edu	37	2	141081612	141081612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:141081612C>T	ENST00000389484.3	-	81	13335	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4122					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)		TCAAAGATATCGATCCTATGT	0.303000										TSP Lung(27;0.18)			42	56					0	0	0.003610	0	0
SPNS1	83985	broad.mit.edu	37	16	28993341	28993341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:28993341C>T	ENST00000311008.11	+	7	1306	c.929C>T	c.(928-930)cCc>cTc	p.P310L	SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Missense_Mutation_p.P237L|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.P355L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	310					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GAGACCCCACCCTGCCTTCCC	0.662000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	16					0	0	0.004007	0	0
ZNF155	7711	broad.mit.edu	37	19	44500877	44500877	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:44500877T>C	ENST00000270014.2	+	5	996	c.868T>C	c.(868-870)Tgt>Cgt	p.C290R	ZNF155_ENST00000590615.1_Missense_Mutation_p.C290R|ZNF155_ENST00000407951.2_Missense_Mutation_p.C301R	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACCATTCAAATGTGATATATG	0.393000													22	47					0	0	0.001882	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167947	57167947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:57167947G>A	ENST00000554643.1	+	3	660	c.311G>A	c.(310-312)aGa>aAa	p.R104K	HSD17B6_ENST00000555805.1_Missense_Mutation_p.R104K|HSD17B6_ENST00000322165.1_Missense_Mutation_p.R104K|HSD17B6_ENST00000555159.1_Missense_Mutation_p.R104K|HSD17B6_ENST00000554150.1_Missense_Mutation_p.R104K			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	104					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGGGGGACAGAGGTATGAAA	0.478000													14	23					0	0	0.002450	0	0
KRT31	3881	broad.mit.edu	37	17	39550277	39550277	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:39550277G>A	ENST00000251645.2	-	7	1294	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	414	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTAGCGCACGAAGGAATTGC	0.612000													26	22					0	0	0.003954	0	0
PAQR6	79957	broad.mit.edu	37	1	156214933	156214933	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:156214933C>T	ENST00000335852.1	-	5	906	c.291_splice	c.e5+1	p.R97_splice	PAQR6_ENST00000368270.1_Splice_Site_p.R179_splice|PAQR6_ENST00000540423.1_Splice_Site_p.R200_splice|PAQR6_ENST00000356983.2_Splice_Site_p.R97_splice|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000292291.5_Splice_Site_p.R203_splice|PAQR6_ENST00000360733.2_Splice_Site_p.R97_splice	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	203						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCCTCCTTACCCGATAAAAGA	0.612000													33	36					0	0	0.004289	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45131822	45131822	+	RNA	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr17:45131822G>A	ENST00000575173.1	-	0	418																											ATGAGGAGGGGGTGAGACGCT	0.483000													44	41					0	0	0.003610	0	0
FAM83H	286077	broad.mit.edu	37	8	144812588	144812588	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144812588G>A	ENST00000388913.3	-	2	290	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	55					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGCACAGGAAGTCTGGTG	0.622000													28	35					0	0	0.001271	0	0
TTLL2	83887	broad.mit.edu	37	6	167755012	167755012	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:167755012C>T	ENST00000239587.5	+	3	1712	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	542					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCGTGTGTCCTGTCAGACCG	0.537000													31	44					0	0	0.002445	0	0
DIABLO	56616	broad.mit.edu	37	12	122693123	122693123	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr12:122693123G>A	ENST00000464942.2	-	5	1759	c.364_splice	c.e5-1	p.G122_splice	DIABLO_ENST00000353548.6_Splice_Site_p.G131_splice|DIABLO_ENST00000267169.6_Splice_Site_p.G122_splice|DIABLO_ENST00000443649.3_Splice_Site_p.G175_splice|DIABLO_ENST00000413918.1_Splice_Site_p.G131_splice|B3GNT4_ENST00000546192.1_3'UTR|RP11-512M8.5_ENST00000535844.1_3'UTR|B3GNT4_ENST00000545141.1_3'UTR	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	175					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CCTGATCTGCGCCTGCCAAAA	0.592000													7	13					0	0	0.003080	0	0
F9	2158	broad.mit.edu	37	X	138630614	138630614	+	Nonsense_Mutation	SNP	C	C	T	rs137852272		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:138630614C>T	ENST00000218099.2	+	5	491	c.484C>T	c.(484-486)Cga>Tga	p.R162*	F9_ENST00000394090.2_Nonsense_Mutation_p.R124*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	162	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAGGGATATCGACTTGCAGA	0.358000													45	2					0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177927976	177927976	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:177927976C>T	ENST00000308284.6	-	9	1222	c.1134_splice	c.e9+1	p.G378_splice	SEC16B_ENST00000464631.1_Splice_Site_p.G379_splice|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	378					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGAACTTACCCCATTCTGGCG	0.458000													9	16					0	0	0.001855	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21955617	21955617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr13:21955617G>A	ENST00000400590.3	-	11	1214	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S276F|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S339F|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S338F|ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	339						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CAGCCACTGAGATTCACTGTC	0.393000													7	21					0	0	0.000274	0	0
PCDH15	65217	broad.mit.edu	37	10	55600246	55600246	+	Missense_Mutation	SNP	G	G	A	rs111033363	byFrequency	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:55600246G>A	ENST00000373965.2	-	30	4232	c.3838C>T	c.(3838-3840)Cgc>Tgc	p.R1280C	PCDH15_ENST00000395438.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1273C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1278C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1273C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1280C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1236C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.R884C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1251C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1202C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1273					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAACATAGCGATCCAAGATC	0.408000										HNSCC(58;0.16)			10	0					0	0	0.000443	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:145281564C>T	ENST00000369340.3	+	5	938	c.494C>T	c.(493-495)tCc>tTc	p.S165F	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S165F|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S165F|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S165F			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	165	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.S165F(4)		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						CTGCCTGGTTCCTACCAGTGC	0.577000													161	1542					0	0	0.003610	0	0
OR2M3	127062	broad.mit.edu	37	1	248367254	248367254	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:248367254G>A	ENST00000456743.1	+	1	923	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCGCAACAAGGAGGTGACCA	0.458000													38	102					0	0	0.001111	0	0
ROS1	6098	broad.mit.edu	37	6	117622160	117622160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:117622160C>T	ENST00000368508.3	-	42	6908	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	ROS1_ENST00000368507.3_Missense_Mutation_p.G2231E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2237					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G2237V(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTTATGACTCCACTGTTGTT	0.328000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								37	26					0	0	0.001951	0	0
COLQ	8292	broad.mit.edu	37	3	15498041	15498041	+	Nonsense_Mutation	SNP	G	G	A	rs113708721		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr3:15498041G>A	ENST00000383788.5	-	14	1125	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	COLQ_ENST00000435459.2_Nonsense_Mutation_p.Q324*|COLQ_ENST00000383786.5_Nonsense_Mutation_p.Q300*|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Nonsense_Mutation_p.Q334*|COLQ_ENST00000383787.2_Nonsense_Mutation_p.Q325*|COLQ_ENST00000383781.4_Nonsense_Mutation_p.Q324*	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	334					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATGGCGTTTTGGGTGTTCAGC	0.547000													15	37					0	0	0.003163	0	0
PRKD2	25865	broad.mit.edu	37	19	47197355	47197355	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr19:47197355G>A	ENST00000433867.1	-	11	1830	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	PRKD2_ENST00000601806.1_Silent_p.S294S|PRKD2_ENST00000600194.1_Silent_p.S294S|PRKD2_ENST00000595515.1_Silent_p.S451S|PRKD2_ENST00000291281.4_Silent_p.S451S	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	451	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGTTCTGGGCGGACTCCACCG	0.587000													20	32					0	0	0.003330	0	0
EPPK1	83481	broad.mit.edu	37	8	144944881	144944881	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:144944881C>T	ENST00000525985.1	-	2	2612	c.2541G>A	c.(2539-2541)agG>agA	p.R847R				P58107	EPIPL_HUMAN	epiplakin 1	847						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGCTGCCTCCTGCGGCCCT	0.642000													11	9					0	0	0.001368	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572788	140572788	+	Silent	SNP	C	C	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140572788C>T	ENST00000239446.4	+	1	847	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCATCCAGGTCTGGGA	0.542000													43	3					0	0	0.001951	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213290686	213290686	+	Silent	SNP	T	T	C			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:213290686T>C	ENST00000366960.3	+	5	556	c.406T>C	c.(406-408)Tta>Cta	p.L136L	RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Silent_p.L124L|RPS6KC1_ENST00000490299.1_Intron|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	136					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGTTCTGAATTAATTGGTCC	0.328000													55	94					0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62849229	62849229	+	Silent	SNP	G	G	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:62849229G>A	ENST00000512091.1	+	18	3687	c.2940G>A	c.(2938-2940)agG>agA	p.R980R	LPHN3_ENST00000506746.1_Silent_p.R1048R|LPHN3_ENST00000508693.1_Silent_p.R1048R|LPHN3_ENST00000507164.1_Silent_p.R1048R|LPHN3_ENST00000514996.1_Silent_p.R980R|LPHN3_ENST00000511324.1_Silent_p.R1048R|LPHN3_ENST00000504896.1_Silent_p.R980R|LPHN3_ENST00000506720.1_Silent_p.R1048R|LPHN3_ENST00000508946.1_Silent_p.R980R|LPHN3_ENST00000514157.1_Silent_p.R980R|LPHN3_ENST00000509896.1_Silent_p.R1048R|LPHN3_ENST00000507625.1_Silent_p.R1048R|LPHN3_ENST00000506700.1_Silent_p.R980R|LPHN3_ENST00000545650.1_Silent_p.R980R|LPHN3_ENST00000514591.1_Silent_p.R980R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	967					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCACGTAGGAAATACTTTT	0.453000													60	90					0	0	0.003610	0	0
CENPL	91687	broad.mit.edu	37	1	173772132	173772133	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr1:173772132_173772133delAC	ENST00000356198.2	-	6	1354_1355	c.1069_1070delGT	c.(1069-1071)afs	p.V357fs	CENPL_ENST00000367710.3_Frame_Shift_Del_p.V311fs|CENPL_ENST00000345664.6_Frame_Shift_Del_p.V311fs	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	311					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TGCTGAAGCTACAGATGTTGAA	0.307													18	39	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97505794	97505794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:97505794delC	ENST00000318357.4	-	7	704	c.663delG	c.(661-663)cgfs	p.R221fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.R179fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.R221fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	221						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						AGTCGGGGTGCCGGGTGCGCA	0.647													2	4	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaatggfs	p.W298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371													8	120	---	---	---	---					
NCKAP1	10787	broad.mit.edu	37	2	183817137	183817152	+	Frame_Shift_Del	DEL	AGTTCAGCAACTTGTG	AGTTCAGCAACTTGTG	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr2:183817137_183817152delAGTTCAGCAACTTGTG	ENST00000360982.2	-	24	3358_3373	c.2600_2615delCACAAGTTGCTGAACT	c.(2599-2616)ttfs	p.SQVAEL867fs	NCKAP1_ENST00000361354.3_Frame_Shift_Del_p.SQVAEL861fs	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	861					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATTACCTTAAGTTCAGCAACTTGTGATGAAATATG	0.296													12	81	---	---	---	---					
CRMP1	1400	broad.mit.edu	37	4	5837637	5837641	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:5837637_5837641delCTTAC	ENST00000324989.7	-	11	1712		c.e11+1		CRMP1_ENST00000397890.2_Splice_Site|CRMP1_ENST00000512574.1_Splice_Site|CRMP1_ENST00000511535.1_Splice_Site	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.?(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TAGGCCAGGACTTACCGACTTGTGA	0.449													35	62	---	---	---	---					
WFS1	7466	broad.mit.edu	37	4	6302505	6302507	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:6302505_6302507delTCT	ENST00000226760.1	+	8	1153_1155	c.983_985delTCT	c.(982-987)atc>a	p.IF328del	WFS1_ENST00000503569.1_In_Frame_Del_p.IF328del	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	328					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AACGCGCTCATCTTCTTCTTCAT	0.542													136	472	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57182826	57182828	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:57182826_57182828delCTT	ENST00000504228.1	+	6	3263_3265	c.3158_3160delCTT	c.(3157-3162)cct>c	p.PS1053del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.PS1053del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.PS1046del			Q6ZU35	K1211_HUMAN	KIAA1211	1053								p.P1053H(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGAGAAACCTTCTCAAACACC	0.596													14	25	---	---	---	---					
CAMK2D	817	broad.mit.edu	37	4	114435031	114435033	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr4:114435031_114435033delCTC	ENST00000454265.2	-	11	1714_1716	c.856_858delGAG	c.(856-858)del	p.E286del	CAMK2D_ENST00000342666.5_In_Frame_Del_p.E286del|CAMK2D_ENST00000514328.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000379773.2_In_Frame_Del_p.E286del|CAMK2D_ENST00000429180.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000394526.2_In_Frame_Del_p.E286del|CAMK2D_ENST00000515496.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000505990.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000418639.2_In_Frame_Del_p.E286del|CAMK2D_ENST00000508738.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000394524.3_In_Frame_Del_p.E286del|CAMK2D_ENST00000511664.1_In_Frame_Del_p.E286del|CAMK2D_ENST00000296402.5_In_Frame_Del_p.E286del|CAMK2D_ENST00000394522.3_In_Frame_Del_p.E286del			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	286	Autoinhibitory domain (By similarity).				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGTCTACAGTCTCCTGTCTGTGC	0.325													18	27	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													3	5	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86324551	86324553	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr6:86324551_86324553delCAC	ENST00000369622.3	-	11	2293_2295	c.1793_1795delGTG	c.(1792-1797)gat>g	p.GD598del	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	598					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCAGAATGATCACCACCTTGGAG	0.478													39	60	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6302515	6302516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:6302515_6302516insT	ENST00000344683.5	+	8	1348_1349	c.1272_1273insT	c.(1270-1275)agattcfs	p.RF424fs	MCPH1_ENST00000519480.1_Frame_Shift_Ins_p.RF424fs|MCPH1_ENST00000522905.1_Frame_Shift_Ins_p.RF376fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	424						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTAAGGAAAGGTATTCAGAGAA	0.465													42	54	---	---	---	---					
UBXN8	7993	broad.mit.edu	37	8	30608866	30608867	+	RNA	INS	-	-	A			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr8:30608866_30608867insA	ENST00000519246.1	+	0	287							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						cctcatctcttaaaaaaaaaGT	0.406													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89690811	89690812	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr10:89690811_89690812delAA	ENST00000371953.3	+	4	1575_1576	c.218_219delAA	c.(217-219)gfs	p.E73fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	73	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.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73fs*25(1)|p.E73fs*4(1)|p.E73V(1)|p.F56fs*2(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)		AGTTGTGCTGAAAGACATTATG	0.307		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)			18	7	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95923537	95923537	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr14:95923537delT	ENST00000334258.5	-	4	780	c.766delA	c.(766-768)cgfs	p.T256fs	SYNE3_ENST00000557275.1_Frame_Shift_Del_p.T256fs|SYNE3_ENST00000553340.1_Frame_Shift_Del_p.T256fs	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AGGCGCTGCGTGATGGGCAGC	0.582													26	12	---	---	---	---					
ULK4P2	100288380	broad.mit.edu	37	15	30878068	30878068	+	RNA	DEL	T	T	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr15:30878068delT	ENST00000569682.1	+	0	173																											tacatttacattttttattCT	0.244													2	4	---	---	---	---					
KIAA0556	23247	broad.mit.edu	37	16	27751863	27751863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr16:27751863delG	ENST00000261588.4	+	15	2264	c.2245delG	c.(2245-2247)ggfs	p.G749fs		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	749										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGAGCCACCCGGGAAAACCCC	0.572													43	62	---	---	---	---					
CDH19	28513	broad.mit.edu	37	18	64221643	64221645	+	Splice_Site	DEL	TGT	TGT	-	rs141895623		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr18:64221643_64221645delTGT	ENST00000262150.2	-	4	899_901	c.610_splice	c.e4+1	p.T203_splice	CDH19_ENST00000540086.1_Splice_Site_p.T203_splice	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	203	Cadherin 2.				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)				CACAAATACCTGTTGTTGGTTCA	0.389													28	6	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)cca>c	p.PAPAANPS253del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	253	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													4	8	---	---	---	---					
SYTL5	94122	broad.mit.edu	37	X	37965921	37965923	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:37965921_37965923delCTT	ENST00000357972.5	+	11	1777_1779	c.1231_1233delCTT	c.(1231-1233)del	p.L412del	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_In_Frame_Del_p.L412del|SYTL5_ENST00000456733.2_In_Frame_Del_p.L434del			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	412	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGTGAAATCCTTCTCCATATCA	0.429													8	39	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-EE-A3AH-06A-11D-A196-08	TCGA-EE-A3AH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75df565b-121f-48fe-ba84-354b1d6cfa05	27cebc43-9d75-4968-8947-ad88e54ebdb4	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---