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
MAGEA6	4105	broad.mit.edu	37	X	151869755	151869755	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:151869755G>A	ENST00000329342.5	+	3	670	c.445G>A	c.(445-447)Gtg>Atg	p.V149M		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	149	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTTTCCTGTGATCTTCAG	0.527000													12	78					0	0	0.539581	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071214	150071214	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:150071214C>T	ENST00000409642.3	+	7	1015	c.614C>T	c.(613-615)cCa>cTa	p.P205L	LYPD6B_ENST00000409029.1_Missense_Mutation_p.P181L|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.P181L|LYPD6B_ENST00000280115.7_Missense_Mutation_p.P205L	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTTGTGCTTCCATTGCTGTGA	0.507000													40	202					0	0	0.853193	0	0
HSPA12A	259217	broad.mit.edu	37	10	118440738	118440738	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:118440738C>T	ENST00000369209.3	-	9	1056	c.952G>A	c.(952-954)Ggt>Agt	p.G318S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	318							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACGGTGCCACCGCCACTGTCC	0.502000													10	31					0	0	0.457914	0	0
ABI3BP	25890	broad.mit.edu	37	3	100511565	100511565	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:100511565G>T	ENST00000471714.1	-	54	4076	c.3967C>A	c.(3967-3969)Cga>Aga	p.R1323R	ABI3BP_ENST00000383691.4_Silent_p.R600R|ABI3BP_ENST00000284322.5_Silent_p.R646R			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	646						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCAGTTGTTCGTGGAATCTTA	0.343000													14	95					1.99824e-07	2.61881e-07	0.520397	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740333	140740333	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140740333G>T	ENST00000522605.1	+	1	631	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCAATTGGTCCTCACAGC	0.483000													15	49					6.49762e-13	1.03083e-12	0.539581	1	0
MEIS2	4212	broad.mit.edu	37	15	37184499	37184499	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:37184499C>A	ENST00000338564.5	-	13	1734	c.1288G>T	c.(1288-1290)Gcc>Tcc	p.A430S	MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A430S|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.A437S|MEIS2_ENST00000557796.2_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	437					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATCATCATGGCTGGGTGGTGG	0.522000													84	187					2.46799e-47	4.71262e-47	0.870114	1	0
HOXA3	3200	broad.mit.edu	37	7	27147963	27147963	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:27147963G>T	ENST00000396352.4	-	3	1102	c.903C>A	c.(901-903)ccC>ccA	p.P301P	HOXA3_ENST00000317201.2_Silent_p.P301P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	301					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGTACCCTGGGGGGGCTTGG	0.716000													16	16					8.00594e-06	9.76447e-06	0.557998	1	0
BOC	91653	broad.mit.edu	37	3	112991422	112991422	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:112991422G>T	ENST00000495514.1	+	7	1537	c.833G>T	c.(832-834)cGc>cTc	p.R278L	BOC_ENST00000355385.3_Missense_Mutation_p.R278L|BOC_ENST00000273395.4_Missense_Mutation_p.R278L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	278	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.R278H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACAAGACGCGCTTCCTGCTG	0.642000													23	83					5.35356e-11	8.06858e-11	0.639603	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651702	1651702	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:1651702C>A	ENST00000399676.2	+	1	670	c.632C>A	c.(631-633)tCc>tAc	p.S211Y		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	211	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTGGATCATCCTGCTGCCAA	0.582000													12	93					1.52009e-12	2.38468e-12	0.479597	1	0
CLCN5	1184	broad.mit.edu	37	X	49853406	49853406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:49853406C>T	ENST00000376088.3	+	12	2250	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	CLCN5_ENST00000376108.3_Nonsense_Mutation_p.R467*|CLCN5_ENST00000307367.2_Nonsense_Mutation_p.R467*|CLCN5_ENST00000376091.3_Nonsense_Mutation_p.R537*	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	467					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TATAGCAGGTCGACTTCTAGG	0.483000													51	155					0	0	0.870114	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806521	6806521	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:6806521T>A	ENST00000307401.4	+	1	274	c.253T>A	c.(253-255)Ttt>Att	p.F85I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTGCGGACTTTCTGCGCAG	0.567000													18	87					0	0	0.557998	0	0
DRD5	1816	broad.mit.edu	37	4	9784138	9784138	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:9784138G>T	ENST00000304374.2	+	1	881	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	162					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTCATGGTCGGCCTGGCATGG	0.622000													9	32					0.000673444	0.000730574	0.361761	1	0
LCT	3938	broad.mit.edu	37	2	136561508	136561508	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:136561508G>T	ENST00000264162.2	-	11	4665	c.4655C>A	c.(4654-4656)gCa>gAa	p.A1552E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1552	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCTGGAGCTGCTGTTCCGTA	0.517000													7	26					0.0381472	0.0392637	0.278610	1	0
HECW1	23072	broad.mit.edu	37	7	43506055	43506055	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:43506055G>T	ENST00000395891.1	+	15	3406	c.2801G>T	c.(2800-2802)aGa>aTa	p.R934I	HECW1_ENST00000453890.1_Missense_Mutation_p.R900I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	934					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GATCTAAGGAGAGAAGGGTCA	0.473000													10	83					0.000442599	0.000488945	0.335167	1	0
MSR1	4481	broad.mit.edu	37	8	16026153	16026153	+	Silent	SNP	A	A	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:16026153A>C	ENST00000350896.3	-	4	641	c.444T>G	c.(442-444)acT>acG	p.T148T	MSR1_ENST00000445506.2_Silent_p.T166T|MSR1_ENST00000262101.5_Silent_p.T148T|MSR1_ENST00000381998.4_Silent_p.T148T|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.T148T	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	148					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATCTTTGATCAGTTGTCATGC	0.398000													3	112					0	0	0.115264	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432879	110432879	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:110432879G>T	ENST00000378402.5	+	23	2761	c.2657G>T	c.(2656-2658)tGc>tTc	p.C886F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	886					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATACAATTGCAGTTACAAT	0.318000										HNSCC(38;0.096)			18	191					6.49762e-13	1.03083e-12	0.539581	1	0
LARS	51520	broad.mit.edu	37	5	145506030	145506030	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:145506030T>G	ENST00000394434.2	-	28	3125	c.2959A>C	c.(2959-2961)Aag>Cag	p.K987Q	LARS_ENST00000274562.9_Missense_Mutation_p.K960Q|LARS_ENST00000545646.1_Missense_Mutation_p.K941Q|LARS_ENST00000510191.1_Missense_Mutation_p.K933Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	987					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATGACTTTCTTCATGTATTTC	0.438000													5	26					0	0	0.248553	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72117072	72117072	+	Silent	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:72117072A>T	ENST00000555818.1	+	5	2187	c.1839A>T	c.(1837-1839)gtA>gtT	p.V613V	SIPA1L1_ENST00000358550.2_Silent_p.V613V|SIPA1L1_ENST00000381232.3_Silent_p.V613V|SIPA1L1_ENST00000537413.1_Silent_p.V88V	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	613	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCAGAAAGTAGGCATCATGT	0.438000													26	298					0	0	0.717897	0	0
ACHE	43	broad.mit.edu	37	7	100490831	100490831	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:100490831G>T	ENST00000302913.4	-	2	1161	c.1023C>A	c.(1021-1023)gaC>gaA	p.D341E	ACHE_ENST00000412389.1_Missense_Mutation_p.D341E|ACHE_ENST00000241069.5_Missense_Mutation_p.D341E|ACHE_ENST00000419336.2_Missense_Mutation_p.D341E|ACHE_ENST00000428317.1_Missense_Mutation_p.D341E|ACHE_ENST00000411582.1_Missense_Mutation_p.D341E	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	341					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCTCTGGGGTGTCACTGAGGA	0.607000													8	17					5.4927e-09	7.77826e-09	0.307466	1	0
GABRA5	2558	broad.mit.edu	37	15	27126012	27126012	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:27126012A>T	ENST00000335625.5	+	4	994	c.106A>T	c.(106-108)Agt>Tgt	p.S36C	GABRA5_ENST00000355395.5_Missense_Mutation_p.S36C|GABRA5_ENST00000400081.3_Missense_Mutation_p.S36C|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	36					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGCCAACCAGTTCAGTGAA	0.423000													17	45					0	0	0.575678	0	0
GCSAML	148823	broad.mit.edu	37	1	247737489	247737489	+	Silent	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:247737489C>G	ENST00000366491.2	+	7	650	c.153C>G	c.(151-153)gtC>gtG	p.V51V	GCSAML_ENST00000527541.1_Silent_p.V39V|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Silent_p.V51V|GCSAML_ENST00000536561.1_Silent_p.V51V|GCSAML_ENST00000366488.4_Silent_p.V71V|GCSAML_ENST00000463359.1_Silent_p.V39V|GCSAML_ENST00000527084.1_Silent_p.V39V					germinal center-associated, signaling and motility-like																		GCTACACTGTCATTAATCACA	0.433000													12	147					0	0	0.411799	0	0
FAM102A	399665	broad.mit.edu	37	9	130742372	130742372	+	Silent	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:130742372A>G	ENST00000373095.1	-	1	420	c.45T>C	c.(43-45)acT>acC	p.T15T		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	15										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CCAGGGTGAAAGTAGTTTGGA	0.527000													3	51					0	0	0.115264	0	0
GPR101	83550	broad.mit.edu	37	X	136112735	136112735	+	Missense_Mutation	SNP	C	C	T	rs144604669		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:136112735C>T	ENST00000298110.1	-	1	1098	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACTGCCTCGACGTCATCCTCA	0.542000													10	155					0	0	0.335167	0	0
RHCG	51458	broad.mit.edu	37	15	90020313	90020313	+	Splice_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:90020313C>A	ENST00000268122.4	-	8	1305	c.1237_splice	c.e8+1	p.G413_splice	RHCG_ENST00000544600.1_Splice_Site_p.G413_splice	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	413					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCCTGCTCACCCACAATGATG	0.602000													4	50					0.00909568	0.0095482	0.150653	1	0
CACNA1C	775	broad.mit.edu	37	12	2797765	2797765	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:2797765C>A	ENST00000399655.1	+	46	6202	c.5937C>A	c.(5935-5937)tcC>tcA	p.S1979S	CACNA1C_ENST00000399629.1_Silent_p.S1996S|CACNA1C_ENST00000399649.1_Silent_p.S1985S|CACNA1C_ENST00000399641.1_Silent_p.S1979S|CACNA1C_ENST00000399644.1_Silent_p.S1979S|CACNA1C_ENST00000399638.1_Silent_p.S2007S|CACNA1C_ENST00000399621.1_Silent_p.S1998S|CACNA1C_ENST00000335762.5_Silent_p.S2004S|CACNA1C_ENST00000344100.3_Silent_p.S2020S|CACNA1C_ENST00000399591.1_Silent_p.S1987S|CACNA1C_ENST00000399617.1_Silent_p.S2014S|CACNA1C_ENST00000399601.1_Silent_p.S1979S|CACNA1C_ENST00000402845.3_Silent_p.S1998S|CACNA1C_ENST00000406454.3_Silent_p.S2050S|CACNA1C_ENST00000327702.7_Silent_p.S2014S|CACNA1C_ENST00000399606.1_Silent_p.S1999S|CACNA1C_ENST00000347598.4_Silent_p.S2027S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Silent_p.S1987S|CACNA1C_ENST00000399603.1_Silent_p.S1979S|CACNA1C_ENST00000399634.1_Silent_p.S2050S|CACNA1C_ENST00000399597.1_Silent_p.S1979S|CACNA1C_ENST00000399637.1_Silent_p.S1998S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2062					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGTCGAGTCCAGTGAGAAAC	0.697000													9	45					0.00621372	0.00658841	0.335167	1	0
FRAS1	80144	broad.mit.edu	37	4	79258885	79258885	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:79258885G>T	ENST00000264895.6	+	20	2776	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	FRAS1_ENST00000325942.6_Missense_Mutation_p.C779F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	779					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCATCTCCTGTTACCCTCAC	0.547000													17	369					1.67942e-08	2.30851e-08	0.539581	1	0
ZNF317	57693	broad.mit.edu	37	19	9271573	9271573	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:9271573G>A	ENST00000247956.6	+	7	1557	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	ZNF317_ENST00000360385.3_Missense_Mutation_p.V386M	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAAGAAACCCGTGGAATGTCG	0.507000													8	86					0	0	0.278610	0	0
ANXA13	312	broad.mit.edu	37	8	124748110	124748110	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:124748110G>C	ENST00000262219.6	-	2	90	c.23C>G	c.(22-24)tCg>tGg	p.S8W	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GAGGGTGTACGACTGGCTCTG	0.493000													29	53					0	0	0.729181	0	0
CACNA1E	777	broad.mit.edu	37	1	181701996	181701996	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:181701996G>C	ENST00000526775.1	+	19	2882	c.2717G>C	c.(2716-2718)cGc>cCc	p.R906P	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	925					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCATCGCCGCGTCAGGACA	0.652000													11	133					0	0	0.435327	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778780	31778780	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:31778780G>A	ENST00000375654.4	-	2	1159	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R324W	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	324					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGCATCCCGAAGCGCTTTT	0.498000													5	55					0	0	0.184627	0	0
HOXD10	3236	broad.mit.edu	37	2	176982041	176982041	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:176982041C>A	ENST00000249501.4	+	1	735	c.480C>A	c.(478-480)acC>acA	p.T160T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	160						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTACGCCACCGGGAAAACCC	0.592000													14	85					1.5842e-08	2.19191e-08	0.435327	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416781	105416781	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:105416781C>T	ENST00000333244.5	-	7	5126	c.5007G>A	c.(5005-5007)ggG>ggA	p.G1669G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1669						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCGACACCCCAAATGATG	0.597000													5	63					0	0	0.184627	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248861	36248861	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:36248861C>A	ENST00000315571.5	+	5	702	c.681C>A	c.(679-681)caC>caA	p.H227Q	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.H178Q|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.H217Q|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	227						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACCACCCCCACCACTGCAACG	0.632000													27	43					2.65835e-16	4.54179e-16	0.717897	1	0
CHST1	8534	broad.mit.edu	37	11	45672125	45672125	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:45672125G>T	ENST00000308064.2	-	4	1019	c.349C>A	c.(349-351)Cta>Ata	p.L117I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	117					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTGGCGCCTAGCATGACCCGC	0.647000													5	16					4.68919e-08	6.32217e-08	0.361761	1	0
TPM2	7169	broad.mit.edu	37	9	35685710	35685710	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:35685710T>A	ENST00000378292.3	-	3	1510	c.308A>T	c.(307-309)cAg>cTg	p.Q103L	TPM2_ENST00000360958.2_Missense_Mutation_p.Q103L|TPM2_ENST00000329305.2_Missense_Mutation_p.Q103L|TPM2_ENST00000378300.5_Missense_Mutation_p.Q103L	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	103					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGCGCTCCTGGGCCCGGTC	0.662000													8	36					0	0	0.387290	0	0
MMP9	4318	broad.mit.edu	37	20	44641101	44641101	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:44641101G>T	ENST00000372330.3	+	8	1229	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	404					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.G404S(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCATGAGTTCGGCCACGCGCT	0.642000													18	45					5.03518e-11	7.61594e-11	0.557998	1	0
DNAJB6	10049	broad.mit.edu	37	7	157178292	157178292	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:157178292C>T	ENST00000262177.4	+	8	883	c.678C>T	c.(676-678)tcC>tcT	p.S226S	DNAJB6_ENST00000452797.2_Silent_p.S177S|DNAJB6_ENST00000429029.2_Silent_p.S226S|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	226	Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGTTAAAGTCCTTAACAATAA	0.363000													4	159					0	0	0.184627	0	0
KCNH2	3757	broad.mit.edu	37	7	150648759	150648759	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:150648759C>A	ENST00000392968.2	-	5	2554	c.1434G>T	c.(1432-1434)atG>atT	p.M478I	KCNH2_ENST00000330883.4_Missense_Mutation_p.M234I|KCNH2_ENST00000262186.5_Missense_Mutation_p.M574I|KCNH2_ENST00000430723.3_Missense_Mutation_p.M574I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	574					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGGCTGCTCCATGTTGCCGA	0.622000													4	19					5.18039e-06	6.35502e-06	0.278610	1	0
MYT1L	23040	broad.mit.edu	37	2	1893091	1893091	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:1893091G>T	ENST00000399161.2	-	16	3189	c.2442C>A	c.(2440-2442)ggC>ggA	p.G814G	MYT1L_ENST00000428368.2_Silent_p.G812G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	814					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCAGCAGTCGCCCTCGCCCA	0.587000													14	52					7.93312e-07	1.00534e-06	0.457914	1	0
PCLO	27445	broad.mit.edu	37	7	82784790	82784790	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:82784790C>A	ENST00000423517.2	-	2	1504	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	PCLO_ENST00000333891.8_Missense_Mutation_p.K389N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	341	Gln-rich.|Pro-rich.				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						GAGCTAAAGCCTTTGGCCCAG	0.592000													16	75					1.52009e-12	2.38468e-12	0.479597	1	0
LCE1E	353135	broad.mit.edu	37	1	152759864	152759864	+	Missense_Mutation	SNP	C	C	T	rs71679991		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:152759864C>T	ENST00000368770.3	+	2	142	c.89C>T	c.(88-90)cCt>cTt	p.P30L	LCE1E_ENST00000368771.1_Missense_Mutation_p.P30L	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	30	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAATGCCCTCCAAAGTGT	0.647000													9	107					0	0	0.335167	0	0
IGSF22	283284	broad.mit.edu	37	11	18730952	18730952	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:18730952G>T	ENST00000513874.1	-	18	3119	c.2980C>A	c.(2980-2982)Cgt>Agt	p.R994S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	893										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCATGGCACGGACCCCCTTG	0.582000													11	79					0.00010058	0.000114099	0.411799	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011398	46011398	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:46011398C>A	ENST00000400368.1	-	1	988	c.968G>T	c.(967-969)tGt>tTt	p.C323F	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	323	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGAGGCACCACAGGAGGGGAC	0.697000													25	171					5.45024e-15	9.12699e-15	0.654019	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798327	148798327	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:148798327C>G	ENST00000355220.5	+	5	1283	c.1181C>G	c.(1180-1182)aCc>aGc	p.T394S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.T365S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	394	MAGE.					cytoplasm|nucleus	protein binding	p.T394N(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACGCTGAGACCAGCAAGATG	0.532000													26	187					0	0	0.693898	0	0
MUC16	94025	broad.mit.edu	37	19	9021104	9021104	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:9021104G>A	ENST00000397910.4	-	19	37422	c.37219C>T	c.(37219-37221)Cac>Tac	p.H12407Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12409	SEA 3.				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						GAGCCAGGGTGACCCATGTCC	0.547000													17	943					0	0	0.520397	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624305	31624305	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:31624305C>G	ENST00000349552.1	+	7	632	c.632C>G	c.(631-633)cCa>cGa	p.P211R		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	211						extracellular region	lipid binding										ATGTCCGCACCAGCCACCACA	0.577000													26	167					0	0	0.779181	0	0
SPEG	10290	broad.mit.edu	37	2	220338542	220338542	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:220338542G>T	ENST00000312358.7	+	18	4496	c.4364G>T	c.(4363-4365)aGc>aTc	p.S1455I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1455	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCGGGTGAGCCGCCGGGAC	0.672000													11	23					0.000151284	0.000170701	0.435327	1	0
TMEM215	401498	broad.mit.edu	37	9	32784860	32784860	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:32784860G>T	ENST00000342743.5	+	2	1044	c.679G>T	c.(679-681)Ggc>Tgc	p.G227C		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	227						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TCAGATACAAGGCAGGTGGGA	0.478000													15	76					3.41278e-10	5.00067e-10	0.520397	1	0
RNF157	114804	broad.mit.edu	37	17	74151342	74151342	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:74151342C>A	ENST00000269391.6	-	16	1887	c.1755G>T	c.(1753-1755)caG>caT	p.Q585H	RNF157_ENST00000319945.6_Intron	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	585							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTCTGCATCCTGCTCTCCAG	0.597000													11	90					1.5842e-08	2.19191e-08	0.435327	1	0
MRPL1	65008	broad.mit.edu	37	4	78792919	78792919	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:78792919A>T	ENST00000315567.8	+	2	382	c.53A>T	c.(52-54)cAt>cTt	p.H18L		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	18							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CATCAAAGGCATAGCCTTTCC	0.303000													13	65					0	0	0.435327	0	0
PSG7	5676	broad.mit.edu	37	19	43441241	43441241	+	RNA	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:43441241C>A	ENST00000406070.2	-	0	84				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCTCTGCTCCCTGCGTGTTCT	0.582000													25	55					1.2476e-16	2.18459e-16	0.706142	1	0
AGTR1	185	broad.mit.edu	37	3	148459755	148459755	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:148459755A>T	ENST00000542281.1	+	4	1379	c.933A>T	c.(931-933)agA>agT	p.R311S	AGTR1_ENST00000418473.2_Missense_Mutation_p.R311S|AGTR1_ENST00000349243.3_Missense_Mutation_p.R311S|AGTR1_ENST00000474935.1_Missense_Mutation_p.R311S|AGTR1_ENST00000402260.1_Missense_Mutation_p.R311S|AGTR1_ENST00000497524.1_Missense_Mutation_p.R311S|AGTR1_ENST00000404754.2_Missense_Mutation_p.R311S|AGTR1_ENST00000461609.1_Missense_Mutation_p.R311S|AGTR1_ENST00000475347.1_Missense_Mutation_p.R311S	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	311				RYF -> KDI (in Ref. 6; BAA02968).	calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AATTTAAAAGATATTTTCTCC	0.378000													10	25					0	0	0.335167	0	0
ITIH6	347365	broad.mit.edu	37	X	54783871	54783871	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:54783871G>T	ENST00000218436.6	-	8	2665	c.2636C>A	c.(2635-2637)cCc>cAc	p.P879H		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	879	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGCATATGGGGGTTTGGGGT	0.483000													25	133					9.90768e-06	1.1878e-05	0.681144	1	0
CRYBB1	1414	broad.mit.edu	37	22	27003934	27003934	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr22:27003934C>T	ENST00000215939.2	-	4	481	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	117	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACTCGCCCTTCTCCAGGATGA	0.567000													7	68					0	0	0.278610	0	0
PXDNL	137902	broad.mit.edu	37	8	52232546	52232546	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:52232546G>C	ENST00000356297.4	-	23	4397	c.4297C>G	c.(4297-4299)Ccg>Gcg	p.P1433A	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1433	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCCGGGGGACAAATC	0.478000													8	22					0	0	0.335167	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426904	204426904	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:204426904G>A	ENST00000367187.3	-	10	2221	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	PIK3C2B_ENST00000424712.2_Silent_p.L555L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	555					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAGCTGGTTGAGAGCACTGG	0.607000													6	29					0	0	0.278610	0	0
C7	730	broad.mit.edu	37	5	40950045	40950045	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:40950045G>T	ENST00000313164.9	+	9	1381	c.1022G>T	c.(1021-1023)gGt>gTt	p.G341V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	341	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAATCCTCAGGTTGGCATTTT	0.353000													6	17					8.12818e-05	9.27052e-05	0.248553	1	0
POTEG	404785	broad.mit.edu	37	14	19553701	19553701	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:19553701G>T	ENST00000409832.3	+	1	337	c.285G>T	c.(283-285)agG>agT	p.R95S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	95										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.617000													8	236					7.03913e-09	9.86881e-09	0.411799	1	0
DNAH9	1770	broad.mit.edu	37	17	11784564	11784564	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:11784564C>A	ENST00000262442.3	+	55	10708	c.10640C>A	c.(10639-10641)cCc>cAc	p.P3547H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3547H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3547	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAATACAATCCCAAGTTCCGG	0.488000													12	109					9.31168e-06	1.11952e-05	0.435327	1	0
PNCK	139728	broad.mit.edu	37	X	152937077	152937077	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:152937077G>T	ENST00000393831.2	-	6	899	c.465C>A	c.(463-465)gtC>gtA	p.V155V	PNCK_ENST00000370142.1_Silent_p.V155V|PNCK_ENST00000370150.1_Silent_p.V155V|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.V238V|PNCK_ENST00000370145.4_Silent_p.V172V|PNCK_ENST00000340888.3_Silent_p.V155V	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	155	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.V155V(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTCAGAGACCATGATCT	0.587000													15	91					3.45872e-05	4.07704e-05	0.500413	1	0
HMMR	3161	broad.mit.edu	37	5	162917412	162917412	+	Missense_Mutation	SNP	G	G	C	rs141056157	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:162917412G>C	ENST00000416990.2	+	17	2131	c.1634G>C	c.(1633-1635)cGc>cCc	p.R545P	HMMR_ENST00000432118.2_Missense_Mutation_p.R573P|HMMR_ENST00000358715.3_Missense_Mutation_p.R659P|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.R644P|HMMR_ENST00000393915.4_Missense_Mutation_p.R660P			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	659						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TCAAAACTCCGCTGTCAGCTT	0.328000													8	66					0	0	0.335167	0	0
PRLR	5618	broad.mit.edu	37	5	35065278	35065278	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:35065278G>T	ENST00000382002.5	-	10	2208	c.1782C>A	c.(1780-1782)aaC>aaA	p.N594K	PRLR_ENST00000511486.1_Missense_Mutation_p.N493K|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.N493K|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	594					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGCAGTGAAGTTGGCCAGGG	0.483000													14	93					0.000151284	0.000170701	0.435327	1	0
FAM27L	284123	broad.mit.edu	37	17	21826405	21826405	+	RNA	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:21826405C>A	ENST00000426869.3	+	0	588					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CTTACTCTGTCTCCCTTGTTT	0.557000													3	5					0.004672	0.00496621	0.115264	1	0
CCNB3	85417	broad.mit.edu	37	X	50052412	50052412	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:50052412A>T	ENST00000376042.1	+	6	1541	c.1243A>T	c.(1243-1245)Atg>Ttg	p.M415L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M415L|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	415					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTCGCTCATTATGAAGCCATT	0.478000													29	67					0	0	0.769981	0	0
USHBP1	83878	broad.mit.edu	37	19	17370486	17370486	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:17370486G>T	ENST00000252597.3	-	6	997	c.824C>A	c.(823-825)aCc>aAc	p.T275N	USHBP1_ENST00000431146.2_Missense_Mutation_p.T211N	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	275							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AAGGATCTGGGTGCTGGAATG	0.567000													30	83					2.65835e-16	4.54179e-16	0.717897	1	0
CFH	3075	broad.mit.edu	37	1	196694367	196694367	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:196694367G>C	ENST00000367429.4	+	12	2053	c.1813G>C	c.(1813-1815)Gga>Cga	p.G605R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	605	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TACAATAGTTGGACCTAATTC	0.378000													13	88					0	0	0.457914	0	0
C1orf168	199920	broad.mit.edu	37	1	57209895	57209895	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:57209895G>T	ENST00000343433.6	-	10	1512	c.1432C>A	c.(1432-1434)Cta>Ata	p.L478I	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	478										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGACCCCTAGGTCTGGAGTT	0.433000													39	173					4.17593e-13	6.75189e-13	0.834066	1	0
CABS1	85438	broad.mit.edu	37	4	71201385	71201385	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:71201385C>A	ENST00000273936.4	+	1	688	c.629C>A	c.(628-630)tCc>tAc	p.S210Y		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	210						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTCACTGATTCCACTATTCCT	0.438000													27	78					4.7796e-09	6.83726e-09	0.681144	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363108	17363108	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:17363108G>T	ENST00000377602.4	-	8	1040	c.966C>A	c.(964-966)tcC>tcA	p.S322S		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	322					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAAGCCGGTGGACAAGCGGT	0.433000													56	140					5.66675e-16	9.64262e-16	0.870114	1	0
FASTKD2	22868	broad.mit.edu	37	2	207651527	207651527	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:207651527G>T	ENST00000236980.6	+	8	1846	c.1498G>T	c.(1498-1500)Gat>Tat	p.D500Y	FASTKD2_ENST00000402774.3_Missense_Mutation_p.D500Y|FASTKD2_ENST00000403094.3_Missense_Mutation_p.D500Y	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	500					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAACTTATTGGATGCAGTATA	0.403000													18	91					3.41278e-10	5.00067e-10	0.520397	1	0
VPS13B	157680	broad.mit.edu	37	8	100160183	100160183	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:100160183C>T	ENST00000395996.1	+	14	2069	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F	VPS13B_ENST00000355155.1_Missense_Mutation_p.S653F|VPS13B_ENST00000358544.2_Missense_Mutation_p.S653F|VPS13B_ENST00000357162.2_Missense_Mutation_p.S653F			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	653					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCACAATTTCCATGGCTGAA	0.368000													18	176					0	0	0.592651	0	0
AMOTL1	154810	broad.mit.edu	37	11	94603922	94603922	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:94603922G>C	ENST00000433060.2	+	13	2974	c.2833G>C	c.(2833-2835)Gag>Cag	p.E945Q	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E895Q|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E532Q	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	945						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCACAAGCCCGAGTTCCCTGA	0.532000													3	14					0	0	0.150653	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180906	142180906	+	RNA	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:142180906C>A	ENST00000390368.2	-	0	110																											ACCCACCTGCCCACAGGAGAG	0.582000													15	48					2.32078e-09	3.33119e-09	0.479597	1	0
LARS	51520	broad.mit.edu	37	5	145506031	145506031	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:145506031C>T	ENST00000394434.2	-	28	3124	c.2958G>A	c.(2956-2958)atG>atA	p.M986I	LARS_ENST00000274562.9_Missense_Mutation_p.M959I|LARS_ENST00000545646.1_Missense_Mutation_p.M940I|LARS_ENST00000510191.1_Missense_Mutation_p.M932I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	986					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGACTTTCTTCATGTATTTCT	0.438000													5	26					0	0	0.217242	0	0
APEX2	27301	broad.mit.edu	37	X	55028735	55028735	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:55028735G>T	ENST00000374987.3	+	3	359	c.293G>T	c.(292-294)gGc>gTc	p.G98V	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	98					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGAAGAAGGCCTGAGTGGC	0.547000								Other BER factors					8	9					1.58986e-06	1.99679e-06	0.361761	1	0
ACAD9	28976	broad.mit.edu	37	3	128631436	128631436	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:128631436G>T	ENST00000308982.7	+	18	1933	c.1852G>T	c.(1852-1854)Gac>Tac	p.D618Y	ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	618						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCACCCTCTGGACAGGACATG	0.537000													10	29					4.36969e-10	6.38066e-10	0.435327	1	0
SNTG1	54212	broad.mit.edu	37	8	51415442	51415442	+	Splice_Site	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:51415442T>A	ENST00000522124.1	+	9	1127		c.e9+2		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTGTGCATGTAAGCATTTAT	0.313000													6	34					0	0	0.248553	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985462	140985462	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:140985462A>G	ENST00000544766.1	+	5	1551	c.1024A>G	c.(1024-1026)Atc>Gtc	p.I342V	MAGEC3_ENST00000536088.1_Missense_Mutation_p.I342V|MAGEC3_ENST00000443323.2_Missense_Mutation_p.I262V|MAGEC3_ENST00000298296.1_Silent_p.L592L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.I342V	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCAAGCTATCCAGTATCA	0.473000													6	177					0	0	0.217242	0	0
KRT83	3889	broad.mit.edu	37	12	52710329	52710329	+	Missense_Mutation	SNP	G	G	T	rs145387028		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:52710329G>T	ENST00000293670.3	-	6	1026	c.964C>A	c.(964-966)Cgc>Agc	p.R322S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	322	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTTGGTGCGGCGCAGGGTC	0.587000													22	108					2.21704e-12	3.45236e-12	0.639603	1	0
NBPF22P	285622	broad.mit.edu	37	5	85582742	85582742	+	RNA	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:85582742A>G	ENST00000590707.1	+	0	734					NR_003719.2																						GAGGAGGTAGAAGACCAAAGC	0.413000													5	22					0	0	0.248553	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183117	147183117	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:147183117G>T	ENST00000361727.3	+	11	2277	c.1761G>T	c.(1759-1761)ggG>ggT	p.G587G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	587	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATACAGTGGGGCCACCTGCC	0.468000										HNSCC(39;0.1)			6	43					0.248553	0.250332	0.248553	1	0
NEK5	341676	broad.mit.edu	37	13	52639627	52639627	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:52639627C>A	ENST00000355568.4	-	22	2182	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	681							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CACTGTCAGGCCCCGTGGGGC	0.582000													9	56					3.86212e-05	4.48985e-05	0.361761	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769734	31769734	+	Missense_Mutation	SNP	T	T	C	rs146913156		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:31769734T>C	ENST00000240587.4	-	2	1292	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	322					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGAAGCTTTCTTCCGAGTGGC	0.522000													18	143					0	0	0.639603	0	0
OR14A16	284532	broad.mit.edu	37	1	247978921	247978921	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:247978921C>T	ENST00000357627.1	-	1	110	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CATTCCCCATCAGGGCACACA	0.388000													16	62					0	0	0.539581	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993694	140993694	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:140993694C>G	ENST00000285879.4	+	4	790	c.504C>G	c.(502-504)agC>agG	p.S168R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	168							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCGCCGCCTCCT	0.483000										HNSCC(15;0.026)			41	237					0	0	0.847076	0	0
OR8B12	219858	broad.mit.edu	37	11	124413483	124413483	+	Missense_Mutation	SNP	C	C	T	rs140680123		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:124413483C>T	ENST00000306842.2	-	1	92	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAGGGGGATCCGCAGTCCCGG	0.547000													7	63					0	0	0.248553	0	0
CEP250	11190	broad.mit.edu	37	20	34061814	34061814	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:34061814C>G	ENST00000397527.1	+	14	2228	c.1508C>G	c.(1507-1509)gCc>gGc	p.A503G	CEP250_ENST00000342580.4_Missense_Mutation_p.A503G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	503	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGGGACTCTGCCCAGGGCCAG	0.637000													3	15					0	0	0.115264	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512946	89512946	+	RNA	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:89512946C>G	ENST00000498435.1	-	0	343																											TAAGTTGCAACATCTTCAGGC	0.502000													27	95					0	0	0.750413	0	0
NBPF9	400818	broad.mit.edu	37	1	144828751	144828751	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:144828751G>T	ENST00000338347.4	+	14	1797	c.1797G>T	c.(1795-1797)ctG>ctT	p.L599L	NBPF9_ENST00000281815.8_Silent_p.L197L|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GTCTCCACCTGGTGTTCCAGA	0.453000													42	316					1.56793e-16	2.73415e-16	0.870114	1	0
CLDN25	644672	broad.mit.edu	37	11	113651176	113651176	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:113651176T>A	ENST00000453129.2	+	1	708	c.659T>A	c.(658-660)cTc>cAc	p.L220H		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	220						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCACCTCATGCTAAGA	0.512000													14	44					0	0	0.479597	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459385	100459385	+	Silent	SNP	C	C	T	rs150865811	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:100459385C>T	ENST00000354161.3	+	12	1688	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	SLC12A9_ENST00000415287.1_Silent_p.D432D|SLC12A9_ENST00000275729.3_Silent_p.D432D|SLC12A9_ENST00000428758.1_Silent_p.D521D|SLC12A9_ENST00000540482.1_Silent_p.D521D	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	521						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGGCTGGACGTCCGGAAGG	0.647000													4	106					0	0	0.184627	0	0
LAMB2	3913	broad.mit.edu	37	3	49158970	49158970	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:49158970C>T	ENST00000418109.1	-	32	5320	c.5156G>A	c.(5155-5157)cGc>cAc	p.R1719H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1719H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1719	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGGGCCTTGCGCTCAGCTAG	0.612000													12	22					0	0	0.387290	0	0
TDRKH	11022	broad.mit.edu	37	1	151747949	151747949	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:151747949C>A	ENST00000368822.1	-	10	1986	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	TDRKH_ENST00000440583.2_Silent_p.L227L|TDRKH_ENST00000368824.3_Silent_p.L451L|TDRKH_ENST00000458431.2_Silent_p.L451L|TDRKH_ENST00000368823.1_Silent_p.L447L|TDRKH_ENST00000368825.3_Silent_p.L406L|TDRKH_ENST00000368827.6_Silent_p.L451L			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	451							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTGGCTACCAGAGGCTTCC	0.463000													11	97					0.000673444	0.000730574	0.361761	1	0
F2RL2	2151	broad.mit.edu	37	5	75914382	75914382	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:75914382C>A	ENST00000296641.4	-	2	353	c.150G>T	c.(148-150)gaG>gaT	p.E50D	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E28D	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	50					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAAGGGGAACTCTTCAAAAG	0.423000													20	135					9.95505e-16	1.68716e-15	0.624587	1	0
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:56230020C>A	ENST00000279791.1	-	1	857	c.858G>T	c.(856-858)atG>atT	p.M286I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M286I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423000													9	70					3.86212e-05	4.48985e-05	0.361761	1	0
KIAA0754	643314	broad.mit.edu	37	1	39878284	39878284	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:39878284A>G	ENST00000530275.1	+	1	2134	c.1939A>G	c.(1939-1941)Aca>Gca	p.T647A	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	647										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGAATGATACAAAGCCTGA	0.448000													25	105					0	0	0.681144	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534474	3534474	+	Missense_Mutation	SNP	C	C	A	rs150743119		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:3534474C>A	ENST00000315677.3	-	10	2792	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	DLGAP1_ENST00000400145.2_Missense_Mutation_p.D431Y|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D733Y|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D431Y|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D423Y|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D449Y|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D439Y|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D733Y|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D439Y|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D441Y|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D417Y|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D733Y	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	733					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTGCTGGCATCGCGGGAGAAC	0.517000													11	26					3.07112e-06	3.80062e-06	0.387290	1	0
LINC01410	103352539	broad.mit.edu	37	9	66458013	66458013	+	RNA	SNP	G	G	T	rs149927749	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:66458013G>T	ENST00000424345.1	+	0	67																											CGGTGCTGCAGTGGCGGATCT	0.716000													5	22					0.000602214	0.000658379	0.184627	1	0
MYH15	22989	broad.mit.edu	37	3	108124234	108124234	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:108124234C>G	ENST00000273353.3	-	34	4803	c.4747G>C	c.(4747-4749)Gaa>Caa	p.E1583Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1583						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1583K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTCAAGTTCTGCTTTAGCT	0.318000													8	22					0	0	0.307466	0	0
MRPL35	51318	broad.mit.edu	37	2	86433236	86433236	+	Silent	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:86433236A>T	ENST00000337109.4	+	2	85	c.51A>T	c.(49-51)ctA>ctT	p.L17L	MRPL35_ENST00000605125.1_Silent_p.L17L|MRPL35_ENST00000409180.1_Silent_p.L17L|MRPL35_ENST00000254644.8_Silent_p.L17L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	17					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						CAGGAATCCTACGGCCCCTGA	0.368000													10	62					0	0	0.361761	0	0
ECE1	1889	broad.mit.edu	37	1	21546569	21546569	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:21546569G>T	ENST00000415912.2	-	19	2269	c.2144C>A	c.(2143-2145)cCc>cAc	p.P715H	ECE1_ENST00000436918.2_Missense_Mutation_p.P699H|ECE1_ENST00000374893.6_Missense_Mutation_p.P731H|ECE1_ENST00000357071.4_Missense_Mutation_p.P719H|ECE1_ENST00000264205.6_Missense_Mutation_p.P728H	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	731					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGGGCTGTGGGGATCGGTGAT	0.632000													9	36					7.48243e-07	9.5108e-07	0.335167	1	0
MT-CO1	4512	broad.mit.edu	37	MT	7275	7275	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrM:7275T>C	ENST00000361624.2	+	1	1372	c.1372T>C	c.(1372-1374)Tca>Cca	p.458_458insP						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CATCTGTAGGCTCATTCATTT	0.428000													112	189					0	0	0.870114	0	0
FANCM	57697	broad.mit.edu	37	14	45645426	45645426	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:45645426G>A	ENST00000267430.5	+	14	3554	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1131K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1157					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGTAAAAGCGAATCTTTACC	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	59					0	0	0.457914	0	0
MYOCD	93649	broad.mit.edu	37	17	12666882	12666882	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:12666882G>A	ENST00000425538.1	+	14	3082	c.2882G>A	c.(2881-2883)aGc>aAc	p.S961N	MYOCD_ENST00000343344.4_Missense_Mutation_p.S913N|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	913					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGCCCCAGCATCTTCAAC	0.512000													8	72					0	0	0.278610	0	0
RFX6	222546	broad.mit.edu	37	6	117250118	117250118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:117250118T>A	ENST00000332958.2	+	18	2611	c.2595T>A	c.(2593-2595)tgT>tgA	p.C865*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	865					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGTTGCATGTCGAACTCCAG	0.403000													8	27					0	0	0.361761	0	0
DOCK2	1794	broad.mit.edu	37	5	169101394	169101394	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:169101394G>T	ENST00000256935.8	+	6	495	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	139					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACCCAAGGATGAGCTGAA	0.493000													13	94					2.27111e-07	2.94895e-07	0.411799	1	0
CD177	57126	broad.mit.edu	37	19	43858045	43858045	+	RNA	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:43858045T>A	ENST00000378009.4	+	0	135				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAGTTCAGCATGTGTGGAAGG	0.607000													25	74					0	0	0.717897	0	0
AHNAK	79026	broad.mit.edu	37	11	62287500	62287500	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:62287500C>A	ENST00000378024.4	-	5	14663	c.14389G>T	c.(14389-14391)Ggt>Tgt	p.G4797C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4797					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCTGGACCTTCTCCTTTG	0.532000													55	180					7.89702e-26	1.48113e-25	0.870114	1	0
OFCC1	266553	broad.mit.edu	37	6	9933147	9933147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:9933147C>A	ENST00000316020.6	-	4	315	c.316G>T	c.(316-318)Gga>Tga	p.G106*	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GCTGGATTTCCAGTGCCTTCT	0.413000													86	190					6.42612e-47	1.22154e-46	0.870114	1	0
COL4A6	1288	broad.mit.edu	37	X	107419023	107419023	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:107419023C>T	ENST00000394872.2	-	29	2925	c.2694G>A	c.(2692-2694)gaG>gaA	p.E898E	COL4A6_ENST00000334504.7_Silent_p.E897E|COL4A6_ENST00000545689.1_Silent_p.E897E|COL4A6_ENST00000538570.1_Silent_p.E897E|COL4A6_ENST00000372216.4_Silent_p.E898E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	898	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGACCCCTTCTCTCCTGTTG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				6	44					0	0	0.248553	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500661	90500661	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:90500661A>G	ENST00000325643.5	+	4	1325	c.1259A>G	c.(1258-1260)cAg>cGg	p.Q420R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCCGTCCTCAGCAAGTCTCT	0.587000													21	95					0	0	0.706142	0	0
ZNF812	729648	broad.mit.edu	37	19	9806899	9806899	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:9806899C>A	ENST00000457674.2	-	0	414				ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATCTCCATTCCTCTTTGTACA	0.433000													6	49					5.9392e-07	7.59498e-07	0.217242	1	0
OR2K2	26248	broad.mit.edu	37	9	114090016	114090016	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:114090016C>G	ENST00000374428.1	-	1	784	c.785G>C	c.(784-786)aGa>aCa	p.R262T	OR2K2_ENST00000302681.1_Missense_Mutation_p.R233T			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGCCTTGTTTCTTCCCTCTGC	0.438000													3	65					0	0	0.115264	0	0
ZNF275	10838	broad.mit.edu	37	X	152613062	152613062	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:152613062G>C	ENST00000421401.3	+	4	1096	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	ZNF275_ENST00000370249.2_Missense_Mutation_p.E254Q|ZNF275_ENST00000440091.1_Missense_Mutation_p.E337Q|ZNF275_ENST00000370251.2_Missense_Mutation_p.E307Q	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	307						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAGCTCGGAGCTCACCAA	0.687000													11	79					0	0	0.435327	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220368420	220368420	+	Splice_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:220368420C>A	ENST00000358951.2	-	12	1246	c.1130_splice	c.e12+1	p.R377_splice		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	377					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACAGACTTGCCTTACAGCTAA	0.423000													44	180					4.01344e-20	7.20711e-20	0.870114	1	0
SRRM4	84530	broad.mit.edu	37	12	119563201	119563201	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:119563201C>A	ENST00000267260.4	+	7	919	c.531C>A	c.(529-531)ccC>ccA	p.P177P	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	177	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAGCCGGCCCCGAAAGTCTC	0.602000													10	36					3.86212e-05	4.48985e-05	0.361761	1	0
SPTLC2	9517	broad.mit.edu	37	14	78063612	78063612	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:78063612T>A	ENST00000216484.2	-	2	437	c.244A>T	c.(244-246)Acc>Tcc	p.T82S		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	82						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.T82A(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCAAAGAGGGTGAGTACGCCA	0.398000													3	62					0	0	0.150653	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095079	69095079	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:69095079G>T	ENST00000332644.5	-	8	1003	c.842C>A	c.(841-843)tCt>tAt	p.S281Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	281	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTCTGTAAAAGAAACTTCTTC	0.368000													11	54					3.03607e-14	4.96598e-14	0.411799	1	0
FAM13C	220965	broad.mit.edu	37	10	61022236	61022236	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:61022236C>A	ENST00000373867.3	-	11	1410	c.945G>T	c.(943-945)ctG>ctT	p.L315L	FAM13C_ENST00000468840.2_Silent_p.L315L|FAM13C_ENST00000373868.2_Silent_p.L398L|FAM13C_ENST00000435852.2_Silent_p.L398L|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Silent_p.L419L|FAM13C_ENST00000422313.2_Silent_p.L398L|FAM13C_ENST00000442566.3_Silent_p.L419L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	398										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTCTCCTTCAGGCATGTCA	0.537000													4	37					3.59834e-05	4.21805e-05	0.217242	1	0
ITSN1	6453	broad.mit.edu	37	21	35107376	35107376	+	Silent	SNP	A	A	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:35107376A>C	ENST00000381318.3	+	5	501	c.213A>C	c.(211-213)ggA>ggC	p.G71G	ITSN1_ENST00000399367.3_Silent_p.G71G|ITSN1_ENST00000399338.4_Silent_p.G71G|ITSN1_ENST00000399355.2_Silent_p.G71G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Silent_p.G71G|ITSN1_ENST00000381285.4_Silent_p.G71G|ITSN1_ENST00000399349.1_Silent_p.G71G|ITSN1_ENST00000381291.4_Silent_p.G71G|ITSN1_ENST00000379960.5_Silent_p.G71G|ITSN1_ENST00000437442.2_Silent_p.G71G|ITSN1_ENST00000399326.3_Silent_p.G71G|ITSN1_ENST00000399352.1_Silent_p.G71G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	71	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATAATGATGGAAGAATGGATC	0.448000													15	60					0	0	0.520397	0	0
ZNF462	58499	broad.mit.edu	37	9	109691365	109691365	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:109691365G>T	ENST00000277225.5	+	3	5461	c.5172G>T	c.(5170-5172)gcG>gcT	p.A1724A	ZNF462_ENST00000457913.1_Silent_p.A1724A|ZNF462_ENST00000441147.2_Silent_p.A569A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1724					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTGATGCGTATTACACTC	0.572000													17	48					3.41278e-10	5.00067e-10	0.520397	1	0
KCNC1	3746	broad.mit.edu	37	11	17793327	17793327	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:17793327A>T	ENST00000379472.3	+	2	716	c.686A>T	c.(685-687)aAt>aTt	p.N229I	KCNC1_ENST00000265969.6_Missense_Mutation_p.N229I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACGTTCGCAATGGCACGCAA	0.577000													11	97					0	0	0.411799	0	0
ZNF180	7733	broad.mit.edu	37	19	44981416	44981416	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:44981416G>T	ENST00000221327.4	-	5	1563	c.1282C>A	c.(1282-1284)Caa>Aaa	p.Q428K	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q401K|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q403K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAGTTCTTTGATGCACAACA	0.418000													38	99					2.19358e-23	4.04232e-23	0.812448	1	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394360	39394360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:39394360G>A	ENST00000254072.6	+	1	64	c.57G>A	c.(55-57)tgG>tgA	p.W19*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	19	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGGAAGCCCACCA	0.612000													67	138					0	0	0.870114	0	0
PLCL2	23228	broad.mit.edu	37	3	17051619	17051619	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:17051619G>C	ENST00000418129.2	+	2	868	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.E135Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.E135Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	261					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGATATGTTAGAAAGTAGCCA	0.393000													4	72					0	0	0.150653	0	0
DHX38	9785	broad.mit.edu	37	16	72137103	72137103	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:72137103A>G	ENST00000268482.3	+	12	2139	c.1630A>G	c.(1630-1632)Att>Gtt	p.I544V	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	544	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCTGCTCACTATTATCAGGTA	0.512000													15	57					0	0	0.479597	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717232	142717232	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:142717232G>T	ENST00000381779.4	-	2	1918	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q565K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q565K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	565	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCAAACTGAACAGGCGTC	0.458000													13	92					1.61879e-10	2.40539e-10	0.411799	1	0
DNAH3	55567	broad.mit.edu	37	16	21035953	21035953	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:21035953G>T	ENST00000261383.3	-	39	5610	c.5611C>A	c.(5611-5613)Ctg>Atg	p.L1871M	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1871M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1871	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGAGGGCAGGGTGTCCATG	0.557000													6	54					3.09899e-07	4.01157e-07	0.307466	1	0
SYTL5	94122	broad.mit.edu	37	X	37985883	37985883	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:37985883G>T	ENST00000357972.5	+	17	2639	c.2093G>T	c.(2092-2094)gGg>gTg	p.G698V	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.G698V|SYTL5_ENST00000456733.2_Missense_Mutation_p.G720V			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	698					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						GACTCTCAGGGGGAAGAGCAG	0.502000													12	42					1.61879e-10	2.40539e-10	0.411799	1	0
KCNH8	131096	broad.mit.edu	37	3	19492795	19492795	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:19492795G>T	ENST00000328405.2	+	10	1990	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	575						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGTGCTCCGGGGGAGTATCTG	0.502000													16	75					6.49762e-13	1.03083e-12	0.539581	1	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:248458257G>T	ENST00000317996.1	-	1	623	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000													13	42					4.93089e-13	7.94212e-13	0.457914	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62875606	62875606	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:62875606C>A	ENST00000253401.6	-	8	1868	c.1068G>T	c.(1066-1068)cgG>cgT	p.R356R	ARHGEF9_ENST00000374870.4_Silent_p.R254R|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Silent_p.R354R|ARHGEF9_ENST00000374872.1_Silent_p.R335R|ARHGEF9_ENST00000437457.2_Silent_p.R303R|ARHGEF9_ENST00000433323.2_Silent_p.R83R	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	356	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGATGTCTCTCCGGATTAGGT	0.468000													54	189					3.56336e-21	6.45381e-21	0.870114	1	0
FAM107B	83641	broad.mit.edu	37	10	14816535	14816535	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:14816535G>A	ENST00000181796.2	-	1	361	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCCACGCCGGACTGATTGAA	0.547000													13	49					0	0	0.457914	0	0
SH3TC1	54436	broad.mit.edu	37	4	8224565	8224565	+	Splice_Site	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:8224565A>T	ENST00000539824.1	+	10	1258		c.e10-1		SH3TC1_ENST00000245105.3_Splice_Site			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1								binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TATTTTTTCCAGGTTGGAAAG	0.418000													4	11					0	0	0.150653	0	0
CACNA1E	777	broad.mit.edu	37	1	181752856	181752856	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:181752856G>T	ENST00000526775.1	+	39	5514	c.5349G>T	c.(5347-5349)acG>acT	p.T1783T	CACNA1E_ENST00000360108.3_Silent_p.T1783T|CACNA1E_ENST00000357570.5_Silent_p.T1753T|CACNA1E_ENST00000367567.4_Silent_p.T1409T|CACNA1E_ENST00000367573.2_Silent_p.T1802T|CACNA1E_ENST00000367570.1_Silent_p.T1802T|CACNA1E_ENST00000358338.5_Silent_p.T1734T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1802					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGACATGACGGTCCACTTCA	0.448000													12	77					1.08611e-07	1.44131e-07	0.387290	1	0
DGKK	139189	broad.mit.edu	37	X	50121187	50121187	+	RNA	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:50121187G>T	ENST00000376025.2	-	0	3079							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACCTGCACTGGGATACCTTC	0.488000													4	57					0.00024832	0.000275766	0.150653	1	0
FRAS1	80144	broad.mit.edu	37	4	79301129	79301129	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:79301129T>C	ENST00000264895.6	+	27	3982	c.3542T>C	c.(3541-3543)gTg>gCg	p.V1181A	FRAS1_ENST00000325942.6_Missense_Mutation_p.V1181A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1180					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGCGTTTTGTGCACAGCAAA	0.473000													30	140					0	0	0.740014	0	0
RYR1	6261	broad.mit.edu	37	19	38976703	38976703	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:38976703C>T	ENST00000355481.4	+	34	5539	c.5408C>T	c.(5407-5409)cCg>cTg	p.P1803L	RYR1_ENST00000360985.3_Missense_Mutation_p.P1803L|RYR1_ENST00000359596.3_Missense_Mutation_p.P1803L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1803	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGCCATCCCGCTGGAGGCC	0.731000													29	44					0	0	0.769981	0	0
TRERF1	55809	broad.mit.edu	37	6	42235934	42235934	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:42235934C>A	ENST00000541110.1	-	5	1963	c.1395G>T	c.(1393-1395)ggG>ggT	p.G465G	TRERF1_ENST00000372922.4_Silent_p.G465G|TRERF1_ENST00000340840.2_Silent_p.G465G|TRERF1_ENST00000354325.2_Silent_p.G465G|TRERF1_ENST00000372917.4_Silent_p.G465G			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	465	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATGCTGAGGCCCCATGTTGT	0.602000													12	46					9.31168e-06	1.11952e-05	0.435327	1	0
CLNK	116449	broad.mit.edu	37	4	10492115	10492115	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:10492115G>T	ENST00000226951.6	-	19	1502	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L	CLNK_ENST00000515667.1_Silent_p.L159L	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	421					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGTGTCTGGTGAGAGGGAGTG	0.413000													3	9					0.00024832	0.000275766	0.150653	1	0
MRPS24	64951	broad.mit.edu	37	7	43906430	43906430	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:43906430C>A	ENST00000317534.5	-	4	433	c.372G>T	c.(370-372)ctG>ctT	p.L124L	RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	124					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACAACTGCCTCAGGACCACGG	0.532000													4	80					0.00909568	0.0095482	0.150653	1	0
GRIK2	2898	broad.mit.edu	37	6	102134215	102134215	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:102134215A>T	ENST00000369138.1	+	6	1428	c.938A>T	c.(937-939)gAt>gTt	p.D313V	GRIK2_ENST00000413795.1_Missense_Mutation_p.D313V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D264V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D313V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D313V|GRIK2_ENST00000421544.1_Missense_Mutation_p.D313V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D313V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	313					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGTTTGCTGGATGGATTTATG	0.373000													21	39					0	0	0.608945	0	0
PDGFD	80310	broad.mit.edu	37	11	103814370	103814370	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:103814370G>A	ENST00000302251.5	-	5	1015	c.564C>T	c.(562-564)tcC>tcT	p.S188S	PDGFD_ENST00000393158.2_Silent_p.S194S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	194					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GAGAGTTATAGGATACCCCCT	0.413000													5	18					0	0	0.248553	0	0
SALL1	6299	broad.mit.edu	37	16	51171412	51171412	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:51171412G>T	ENST00000440970.1	-	3	3726	c.3295C>A	c.(3295-3297)Cgg>Agg	p.R1099R	SALL1_ENST00000541611.1_Silent_p.R19R|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.R1196R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1196					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)			ACAGAGAGCCGCCGACCCCGT	0.547000													10	25					1.08611e-07	1.44131e-07	0.387290	1	0
ZFP37	7539	broad.mit.edu	37	9	115805895	115805895	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:115805895G>T	ENST00000374227.3	-	4	1030	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N	ZFP37_ENST00000553380.1_Missense_Mutation_p.H350N|ZFP37_ENST00000555206.1_Missense_Mutation_p.H336N			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	335						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAACAAGGTGTGACTTTTGG	0.423000													10	96					7.03913e-09	9.86881e-09	0.411799	1	0
DCHS2	54798	broad.mit.edu	37	4	155256138	155256138	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:155256138G>T	ENST00000357232.3	-	8	1097	c.1098C>A	c.(1096-1098)caC>caA	p.H366Q	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.H865Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	366	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTGGAAAATGTGTATGGTGA	0.448000													20	62					5.35267e-07	6.90772e-07	0.557998	1	0
RTDR1	27156	broad.mit.edu	37	22	23401824	23401824	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr22:23401824G>T	ENST00000216036.4	-	7	1059	c.863C>A	c.(862-864)gCg>gAg	p.A288E		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	288							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTCAGGCGCGCTATGGTCAT	0.657000													12	66					6.31663e-08	8.4355e-08	0.479597	1	0
SENP7	57337	broad.mit.edu	37	3	101058994	101058994	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:101058994C>G	ENST00000394095.2	-	16	2355	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	SENP7_ENST00000394091.1_Missense_Mutation_p.E604Q|SENP7_ENST00000314261.7_Missense_Mutation_p.E702Q|SENP7_ENST00000358203.3_Missense_Mutation_p.E604Q|SENP7_ENST00000348610.3_Missense_Mutation_p.E735Q|SENP7_ENST00000394094.2_Missense_Mutation_p.E703Q	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	768	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTAAACACTCCAGATCTTCA	0.299000													6	23					0	0	0.278610	0	0
SUMO1	7341	broad.mit.edu	37	2	203084823	203084823	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:203084823T>C	ENST00000392246.2	-	2	175	c.19A>G	c.(19-21)Aaa>Gaa	p.K7E	SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409205.1_5'UTR|SUMO1_ENST00000409368.1_Missense_Mutation_p.K7E|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392245.1_Missense_Mutation_p.K7E|SUMO1_ENST00000409712.1_Missense_Mutation_p.K7E|SUMO1_ENST00000409498.2_5'UTR|SUMO1_ENST00000409181.1_Missense_Mutation_p.K7E	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	7					DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										GTTGAAGGTTTTGCCTCCTGA	0.338000													41	114					0	0	0.864702	0	0
PRMT8	56341	broad.mit.edu	37	12	3659225	3659225	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:3659225G>A	ENST00000382622.3	+	3	775	c.385G>A	c.(385-387)Gct>Act	p.A129T	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A120T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	129					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.A129T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCATGTTCGCTGCCAAGGC	0.577000													23	58					0	0	0.681144	0	0
LRP1B	53353	broad.mit.edu	37	2	141707834	141707834	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:141707834C>A	ENST00000389484.3	-	20	4077	c.3106G>T	c.(3106-3108)Gat>Tat	p.D1036Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1036	LDL-receptor class A 7.				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)		TGGGCTTCATCACTGAAGTCC	0.378000										TSP Lung(27;0.18)			4	53					0.00024832	0.000275766	0.150653	1	0
ETNPPL	64850	broad.mit.edu	37	4	109674112	109674112	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:109674112G>T	ENST00000296486.3	-	6	711	c.557C>A	c.(556-558)gCc>gAc	p.A186D	ETNPPL_ENST00000510706.1_Missense_Mutation_p.A146D|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A128D|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A180D	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		ATAAGCACTGGCTGAGTCTGC	0.373000													6	44					2.7689e-08	3.78147e-08	0.248553	1	0
MON2	23041	broad.mit.edu	37	12	62861048	62861048	+	Silent	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:62861048T>C	ENST00000393630.3	+	1	452	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L	MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Silent_p.L21L|MON2_ENST00000393632.2_Silent_p.L21L|MON2_ENST00000280379.6_Silent_p.L21L|MON2_ENST00000393629.2_Silent_p.L21L|MON2_ENST00000552738.1_Silent_p.L21L|MON2_ENST00000552115.1_Silent_p.L21L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	21					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GCAGAGCGACTTGCGCGCCTT	0.557000													14	71					0	0	0.457914	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134184	91134184	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:91134184C>A	ENST00000373094.1	+	2	3790	c.2945C>A	c.(2944-2946)tCc>tAc	p.S982Y	PCDH11X_ENST00000395337.2_Missense_Mutation_p.S982Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S982Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S982Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S982Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S982Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S982Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S982Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S982Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	982					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAAGTGTTCCTCAAGCAGT	0.502000													54	87					2.43277e-16	4.22481e-16	0.870114	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935722	151935722	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:151935722C>T	ENST00000393902.3	-	3	1012	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149M			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAGATCACAGGAAAGAAA	0.517000													5	141					0	0	0.248553	0	0
AKAP6	9472	broad.mit.edu	37	14	33242914	33242914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:33242914C>T	ENST00000280979.4	+	12	3573	c.3403C>T	c.(3403-3405)Cga>Tga	p.R1135*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.R1135*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1135					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCAACGACGTCGAGGAGTTGC	0.478000													16	152					0	0	0.539581	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146528	70146528	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:70146528G>T	ENST00000374299.3	-	10	1613	c.1469C>A	c.(1468-1470)gCt>gAt	p.A490D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A490D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	490					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGGCAAAGAGCAGTCAGCAG	0.498000													4	11					0.00024832	0.000275766	0.150653	1	0
LOC93432	93432	broad.mit.edu	37	7	141837261	141837261	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:141837261C>T	ENST00000477922.3	+	9	930	c.876C>T	c.(874-876)atC>atT	p.I292I	RP11-1220K2.2_ENST00000550469.2_Silent_p.I292I																endometrium(1)|lung(5)	6						CTCCTGCGATCACTTATCGCA	0.388000													3	13					0	0	0.115264	0	0
PLCB1	23236	broad.mit.edu	37	20	8721041	8721041	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:8721041C>A	ENST00000378641.3	+	22	2834	c.2359C>A	c.(2359-2361)Cct>Act	p.P787T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P787T|PLCB1_ENST00000338037.6_Missense_Mutation_p.P787T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	787					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTGACGCTGCCTGCTGTCTT	0.403000													4	44					0.0215528	0.0222378	0.217242	1	0
DCDC2	51473	broad.mit.edu	37	6	24178818	24178818	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:24178818C>A	ENST00000378454.3	-	9	1367	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	DCDC2_ENST00000378450.3_Missense_Mutation_p.A109S	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	356					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCCTTGTTTGCCTTCTCTCCA	0.438000													8	89					2.17888e-05	2.58283e-05	0.335167	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768401	31768401	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:31768401C>T	ENST00000240587.4	-	2	2625	c.2298G>A	c.(2296-2298)ccG>ccA	p.P766P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	766					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P766P(1)|p.P583P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCAGGGGCGGCGGGGTGGCCA	0.597000													35	37					0	0	0.796494	0	0
ABI2	10152	broad.mit.edu	37	2	204245042	204245042	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:204245042C>T	ENST00000295851.4	+	3	693	c.397C>T	c.(397-399)Cca>Tca	p.P133S	ABI2_ENST00000422511.2_Missense_Mutation_p.P133S|ABI2_ENST00000261016.6_Missense_Mutation_p.P88S|ABI2_ENST00000261017.5_Missense_Mutation_p.P133S|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.P133S|ABI2_ENST00000430418.1_Missense_Mutation_p.P133S			Q9NYB9	ABI2_HUMAN	abl-interactor 2	133					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTTGAACGACCAGTTCGTTA	0.318000													27	82					0	0	0.729181	0	0
TBX20	57057	broad.mit.edu	37	7	35242075	35242075	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:35242075G>A	ENST00000408931.3	-	8	1837	c.1311C>T	c.(1309-1311)cgC>cgT	p.R437R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	437						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CAGAGGAATGGCGTAGTCCTT	0.498000													14	12					0	0	0.457914	0	0
TRMT13	54482	broad.mit.edu	37	1	100609673	100609673	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:100609673G>A	ENST00000370141.2	+	9	797	c.791G>A	c.(790-792)gGa>gAa	p.G264E	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		GTAGGAATTGGAAAGCATCTG	0.368000													8	52					0	0	0.411799	0	0
APOB	338	broad.mit.edu	37	2	21233079	21233079	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:21233079T>G	ENST00000233242.1	-	26	6788	c.6661A>C	c.(6661-6663)Aat>Cat	p.N2221H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2221				N -> I (in Ref. 5; CAA28420).	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)	TTTACTAAATTTACACGGATA	0.264000													3	39					0	0	0.115264	0	0
CLGN	1047	broad.mit.edu	37	4	141315153	141315153	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:141315153C>T	ENST00000325617.5	-	11	1632	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CLGN_ENST00000537281.1_Missense_Mutation_p.E398K|CLGN_ENST00000414773.1_Missense_Mutation_p.E398K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	398					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGATCATCTTCGAAATAATCT	0.328000													8	32					0	0	0.361761	0	0
MT1E	4493	broad.mit.edu	37	16	56660466	56660466	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:56660466G>A	ENST00000330439.6	+	2	171	c.117G>A	c.(115-117)agG>agA	p.R39R	MT1E_ENST00000568293.1_Intron|MT1E_ENST00000306061.6_Intron			P04732	MT1E_HUMAN	metallothionein 1E	0	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										CCATCTCCAGGAATCTGGGGC	0.587000													4	51					0	0	0.150653	0	0
THADA	63892	broad.mit.edu	37	2	43735790	43735790	+	Silent	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:43735790T>A	ENST00000405006.4	-	23	3855	c.3504A>T	c.(3502-3504)atA>atT	p.I1168I	THADA_ENST00000415080.2_Silent_p.I878I|THADA_ENST00000405975.2_Silent_p.I1168I|THADA_ENST00000330266.7_Silent_p.I878I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1168							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAAATACCTGTATGTAGAAAG	0.393000													16	71					0	0	0.520397	0	0
GRID2	2895	broad.mit.edu	37	4	94436539	94436539	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:94436539G>C	ENST00000282020.4	+	13	2428	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	GRID2_ENST00000510992.1_Missense_Mutation_p.E629Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	724					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAATGTTCTGGAGTCCCAGGC	0.458000													13	43					0	0	0.457914	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572791	140572791	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140572791G>T	ENST00000239446.4	+	1	850	c.666G>T	c.(664-666)agG>agT	p.R222S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		222	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)			CTCCATCCAGGTCTGGGACCT	0.547000													29	73					1.68575e-08	2.3097e-08	0.717897	1	0
TTN	7273	broad.mit.edu	37	2	179486302	179486302	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:179486302C>T	ENST00000589042.1	-	245	45473	c.45249G>A	c.(45247-45249)cgG>cgA	p.R15083R	TTN_ENST00000342175.6_Silent_p.R6210R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.R13442R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R6018R|TTN_ENST00000342992.6_Silent_p.R12515R|TTN_ENST00000359218.5_Silent_p.R6143R|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13442	Fibronectin type-III 9.						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)			GGATTCTCTTCCGTCCTTCAG	0.463000													4	60					0	0	0.217242	0	0
LINC00471	151477	broad.mit.edu	37	2	232373754	232373754	+	RNA	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:232373754G>A	ENST00000313064.2	-	0	664					NR_024079.1																						GTTTTCAGAGGGATGGATTTT	0.507000													20	43					0	0	0.592651	0	0
ARSH	347527	broad.mit.edu	37	X	2951228	2951228	+	Silent	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:2951228T>A	ENST00000381130.2	+	9	1491	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	497						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACTGAACCCTGACAATGAGC	0.493000													8	44					0	0	0.278610	0	0
GABRA4	2557	broad.mit.edu	37	4	46930518	46930518	+	Silent	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:46930518A>G	ENST00000264318.3	-	9	2371	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	463				Y -> H (in Ref. 1; AAB52519).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCGAGGCATATATCCAGTTC	0.473000													8	86					0	0	0.307466	0	0
BRINP3	339479	broad.mit.edu	37	1	190067901	190067901	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:190067901G>T	ENST00000367462.3	-	8	1779	c.1548C>A	c.(1546-1548)agC>agA	p.S516R	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S414R	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		516						extracellular region		p.S516R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCATGTCATTGCTGATAAAAA	0.443000													27	109					4.22769e-11	6.44075e-11	0.706142	1	0
LSP1	4046	broad.mit.edu	37	11	1904722	1904722	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:1904722G>T	ENST00000406638.2	+	4	1546	c.244G>T	c.(244-246)Ggg>Tgg	p.G82W	LSP1_ENST00000381775.1_Missense_Mutation_p.G272W|LSP1_ENST00000405957.2_Missense_Mutation_p.G82W|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.G144W	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	144					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GAGCAAGGAGGGGCCAGGCCC	0.627000													4	20					8.12818e-05	9.27052e-05	0.248553	1	0
UGT2A2	574537	broad.mit.edu	37	4	70505336	70505336	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:70505336G>T	ENST00000457664.2	-	1	22	c.23C>A	c.(22-24)aCc>aAc	p.T8N	UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron	NM_001105677.2	NP_001099147.2																					CTTAGGCATGGTAAAATCCCT	0.328000													22	77					7.16444e-05	8.28327e-05	0.667858	1	0
BTNL3	10917	broad.mit.edu	37	5	180432597	180432597	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:180432597G>T	ENST00000342868.6	+	8	1310	c.1126G>T	c.(1126-1128)Ggg>Tgg	p.G376W		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	376	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCCCAACAATGGGTATTGGGT	0.512000													16	88					1.67942e-08	2.30851e-08	0.539581	1	0
ZNF569	148266	broad.mit.edu	37	19	37905272	37905272	+	Nonstop_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:37905272C>G	ENST00000592490.1	-	4	393	c.65G>C	c.(64-66)tGa>tCa	p.*22S	ZNF569_ENST00000316950.6_Missense_Mutation_p.L96F|ZNF569_ENST00000392149.2_Missense_Mutation_p.L96F|ZNF569_ENST00000392150.2_5'UTR			Q5MCW4	ZN569_HUMAN	zinc finger protein 569	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACTTGTCTCAAAAGTCTGT	0.313000													6	58					0	0	0.217242	0	0
ATP2B2	491	broad.mit.edu	37	3	10382001	10382001	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:10382001G>C	ENST00000397077.1	-	20	3602	c.3027C>G	c.(3025-3027)ttC>ttG	p.F1009L	ATP2B2_ENST00000383800.4_Missense_Mutation_p.F1009L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.F1054L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.F1054L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.F1040L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1054					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGAGCAGCTGAATGGCTTCC	0.567000													20	141					0	0	0.639603	0	0
MSL2	55167	broad.mit.edu	37	3	135871276	135871276	+	Silent	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:135871276T>A	ENST00000309993.2	-	2	1179	c.447A>T	c.(445-447)tcA>tcT	p.S149S	MSL2_ENST00000434835.2_Silent_p.S75S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	149					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AAGTAAAGGATGAATCTGAGG	0.403000													17	59					0	0	0.539581	0	0
TG	7038	broad.mit.edu	37	8	133984967	133984967	+	Silent	SNP	C	C	T	rs141876854	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:133984967C>T	ENST00000220616.4	+	34	6220	c.6180C>T	c.(6178-6180)ttC>ttT	p.F2060F	TG_ENST00000542445.1_Silent_p.F430F|TG_ENST00000519543.1_Silent_p.F214F|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Silent_p.F2003F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2060					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTATCCCTTCGGATGGTACC	0.473000													14	164					0	0	0.539581	0	0
OR2B6	26212	broad.mit.edu	37	6	27925140	27925140	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:27925140G>T	ENST00000244623.1	+	1	122	c.122G>T	c.(121-123)gGc>gTc	p.G41V		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCATCTTTGGCAATCTGACC	0.428000													32	77					1.56442e-22	2.85794e-22	0.760397	1	0
DRD5	1816	broad.mit.edu	37	4	9784013	9784013	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:9784013C>A	ENST00000304374.2	+	1	756	c.360C>A	c.(358-360)gaC>gaA	p.D120E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	120					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGCCTTCGACATCATGTGCT	0.617000													4	33					0.014758	0.0153019	0.184627	1	0
FSD2	123722	broad.mit.edu	37	15	83440922	83440922	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:83440922G>T	ENST00000334574.8	-	7	1351	c.1170C>A	c.(1168-1170)gtC>gtA	p.V390V	FSD2_ENST00000541889.1_Silent_p.V390V			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	390	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGCACACTCGGACTGAGGAAC	0.522000													7	28					8.12818e-05	9.27052e-05	0.248553	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													9	101					0	0	0.387290	0	0
MUC16	94025	broad.mit.edu	37	19	9010703	9010703	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:9010703G>T	ENST00000397910.4	-	38	39161	c.38958C>A	c.(38956-38958)acC>acA	p.T12986T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12988					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						CCACTGTGGAGGTCCCAGGAG	0.527000													38	107					5.59293e-11	8.39934e-11	0.827153	1	0
DMBT1	1755	broad.mit.edu	37	10	124353097	124353097	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:124353097G>A	ENST00000368909.3	+	21	2619	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	DMBT1_ENST00000368955.3_Missense_Mutation_p.R828Q|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.R838Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R828Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	838					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCAGTCCCGGCCGACACCC	0.522000													8	331					0	0	0.307466	0	0
ACSM5	54988	broad.mit.edu	37	16	20435268	20435268	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:20435268C>T	ENST00000331849.4	+	6	945	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	266					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AATCTGACATCTTCTGGAACA	0.483000													35	228					0	0	0.834066	0	0
TBC1D5	9779	broad.mit.edu	37	3	17446185	17446185	+	Splice_Site	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:17446185C>T	ENST00000253692.7	-	7	2106		c.e7+1		TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000429924.2_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5							intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACGAACTTTACCCCTTCATCC	0.373000													33	288					0	0	0.788014	0	0
COL11A1	1301	broad.mit.edu	37	1	103400031	103400031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:103400031C>A	ENST00000358392.2	-	46	3927	c.3610G>T	c.(3610-3612)Gga>Tga	p.G1204*	COL11A1_ENST00000370096.3_Nonsense_Mutation_p.G1192*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.G1153*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.G1076*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1192	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1192R(1)|p.G1204R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGAGGTCCAGGGAAGCCT	0.483000													13	52					5.50884e-06	6.73835e-06	0.411799	1	0
DGKI	9162	broad.mit.edu	37	7	137341260	137341260	+	Silent	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:137341260T>G	ENST00000424189.2	-	4	862	c.633A>C	c.(631-633)gcA>gcC	p.A211A	DGKI_ENST00000288490.5_Silent_p.A211A|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.A211A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	211					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						TTTTACAGACTGCACACTTCC	0.418000											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	164					0	0	0.500413	0	0
FANCM	57697	broad.mit.edu	37	14	45644661	45644661	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:45644661G>C	ENST00000267430.5	+	14	2789	c.2704G>C	c.(2704-2706)Gat>Cat	p.D902H	FANCM_ENST00000542564.2_Missense_Mutation_p.D876H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	902					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGGACATCAGATACAGATGA	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	51					0	0	0.387290	0	0
HEPH	9843	broad.mit.edu	37	X	65409583	65409583	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:65409583G>A	ENST00000519389.1	+	6	1207	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	HEPH_ENST00000374727.3_Missense_Mutation_p.R292H|HEPH_ENST00000419594.1_Missense_Mutation_p.R292H|HEPH_ENST00000336279.5_Missense_Mutation_p.R22H|HEPH_ENST00000343002.2_Missense_Mutation_p.R289H|HEPH_ENST00000441993.2_Missense_Mutation_p.R292H			Q9BQS7	HEPH_HUMAN	hephaestin	289	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCACAGAAACGTGTGGCCTGG	0.443000													27	73					0	0	0.693898	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222687	130222687	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:130222687G>T	ENST00000276211.5	+	12	1917	c.1572G>T	c.(1570-1572)gaG>gaT	p.E524D	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E388D|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E512D	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	524					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCATTCCGGAGCAAGACCGCC	0.552000													17	48					3.99206e-14	6.50443e-14	0.557998	1	0
FAM154A	158297	broad.mit.edu	37	9	18928121	18928121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:18928121G>A	ENST00000380534.4	-	4	1633	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	FAM154A_ENST00000542071.1_Nonsense_Mutation_p.Q260*|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	452										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTGCTCTGCTGAGAGCCTGCC	0.453000													11	79					0	0	0.411799	0	0
MAN1B1	11253	broad.mit.edu	37	9	139982623	139982623	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:139982623G>T	ENST00000371589.4	+	2	389	c.316G>T	c.(316-318)Gac>Tac	p.D106Y		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	106					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAACTTGGCTGACCATTGGAA	0.433000													4	15					0.014758	0.0153019	0.184627	1	0
FER1L6	654463	broad.mit.edu	37	8	125076606	125076606	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:125076606C>A	ENST00000522917.1	+	26	3553	c.3347C>A	c.(3346-3348)aCa>aAa	p.T1116K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1116K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1116						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GATTCGCTAACAGCCACTGAG	0.532000													66	80					7.07328e-35	1.33256e-34	0.870114	1	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:40359793C>T	ENST00000338305.6	-	3	2801	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													9	70					0	0	0.387290	0	0
OR5A1	219982	broad.mit.edu	37	11	59211010	59211010	+	Silent	SNP	C	C	T	rs139346783	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:59211010C>T	ENST00000302030.2	+	1	394	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTATGGCATACGACCGATATG	0.542000													105	377					0	0	0.870114	0	0
AMPH	273	broad.mit.edu	37	7	38530670	38530670	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:38530670C>A	ENST00000356264.2	-	5	591	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W	AMPH_ENST00000325590.5_Missense_Mutation_p.G126W|AMPH_ENST00000428293.2_Missense_Mutation_p.G126W	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	126	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						GGAAATTGCCCCAGGTAGGTA	0.408000													24	395					4.72057e-08	6.34421e-08	0.667858	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73066631	73066631	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:73066631C>T	ENST00000263674.3	+	4	3857	c.3507C>T	c.(3505-3507)ctC>ctT	p.L1169L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1169	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATAACTTCCTCAATGCAAAGG	0.552000													10	24					0	0	0.335167	0	0
OR10H1	26539	broad.mit.edu	37	19	15918412	15918412	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:15918412C>A	ENST00000334920.2	-	1	524	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGGAGCAGCCCACCAGGCAG	0.632000													21	49					4.26978e-12	6.60017e-12	0.654019	1	0
TFDP1	7027	broad.mit.edu	37	13	114294517	114294517	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:114294517G>T	ENST00000375370.5	+	12	1380	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	TFDP1_ENST00000544902.1_Missense_Mutation_p.V361L|TFDP1_ENST00000538138.1_Missense_Mutation_p.V291L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	390					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGAGACTCCGGTGTCCTacgt	0.597000										TSP Lung(29;0.18)			4	31					0.00024832	0.000275766	0.150653	1	0
YIPF4	84272	broad.mit.edu	37	2	32530586	32530586	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:32530586G>T	ENST00000238831.3	+	6	872	c.626G>T	c.(625-627)aGt>aTt	p.S209I		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	209						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTACAGTGCTGCTTCA	0.323000													5	20					5.9392e-07	7.59498e-07	0.217242	1	0
HEPH	9843	broad.mit.edu	37	X	65427133	65427133	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:65427133C>A	ENST00000519389.1	+	14	2729	c.2550C>A	c.(2548-2550)atC>atA	p.I850I	HEPH_ENST00000374727.3_Silent_p.I799I|HEPH_ENST00000419594.1_Silent_p.I607I|HEPH_ENST00000336279.5_Silent_p.I529I|HEPH_ENST00000343002.2_Silent_p.I796I|HEPH_ENST00000441993.2_Silent_p.I799I			Q9BQS7	HEPH_HUMAN	hephaestin	796	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATTCAGGATCCCTCGGCCAA	0.478000													9	39					1.33987e-11	2.0636e-11	0.361761	1	0
MEOX2	4223	broad.mit.edu	37	7	15725983	15725983	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:15725983C>T	ENST00000262041.5	-	1	454	c.45G>A	c.(43-45)acG>acA	p.T15T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	15					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGCCTTGCGCCGTGGCGTGAG	0.577000													6	8					0	0	0.307466	0	0
TLR4	7099	broad.mit.edu	37	9	120474768	120474768	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:120474768C>A	ENST00000355622.6	+	3	463	c.362C>A	c.(361-363)gCc>gAc	p.A121D	TLR4_ENST00000394487.4_Missense_Mutation_p.A81D|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	121					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCCCTGGGAGCCTTTTCTGGA	0.443000													13	54					1.05317e-09	1.52728e-09	0.457914	1	0
DDX11	1663	broad.mit.edu	37	12	31256562	31256562	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:31256562A>T	ENST00000350437.4	+	25	2636	c.2438A>T	c.(2437-2439)cAg>cTg	p.Q813L	DDX11_ENST00000545668.1_Silent_p.P861P|DDX11_ENST00000407793.2_Silent_p.P861P|DDX11_ENST00000542838.1_Missense_Mutation_p.Q863L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.Q837L	NM_004399.2	NP_004390.3	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	0					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTCCTGGACCAGCGATATGCC	0.647000										Multiple Myeloma(12;0.14)			13	29					0	0	0.435327	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770370	25770370	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:25770370C>T	ENST00000377905.4	+	4	492	c.373C>T	c.(373-375)Cca>Tca	p.P125S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	125					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTCTTGGCTCCAATCCCCAG	0.488000													4	183					0	0	0.184627	0	0
DYRK3	8444	broad.mit.edu	37	1	206821481	206821481	+	Missense_Mutation	SNP	G	G	A	rs17851298		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:206821481G>A	ENST00000367106.1	+	4	1351	c.878G>A	c.(877-879)cGc>cAc	p.R293H	DYRK3_ENST00000367108.3_Missense_Mutation_p.R293H|DYRK3_ENST00000367109.2_Missense_Mutation_p.R313H|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	313	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGTTGGTACGCAAGTTTGCC	0.418000													7	156					0	0	0.278610	0	0
ZAP70	7535	broad.mit.edu	37	2	98351815	98351815	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:98351815C>A	ENST00000264972.5	+	10	1400	c.1185C>A	c.(1183-1185)aaC>aaA	p.N395K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.N88K|ZAP70_ENST00000442208.1_Missense_Mutation_p.N269K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	395	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCTGGACAACCCCTACATCG	0.632000													8	128					0.00307968	0.00331537	0.278610	1	0
DCAF13	25879	broad.mit.edu	37	8	104447974	104447974	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:104447974C>T	ENST00000297579.5	+	8	1639	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	302					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTGCTAGTTTCGATAAATCTA	0.428000													23	74					0	0	0.639603	0	0
PTPRG	5793	broad.mit.edu	37	3	61548019	61548019	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:61548019G>T	ENST00000474889.1	+	1	435	c.58G>T	c.(58-60)Gtg>Ttg	p.V20L	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Missense_Mutation_p.V20L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	20					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CACCAGTTCCGTGCTCCATTA	0.607000													7	25					0.00448238	0.00480093	0.307466	1	0
NLRP3	114548	broad.mit.edu	37	1	247592923	247592923	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:247592923G>T	ENST00000366497.2	+	5	2973	c.2193G>T	c.(2191-2193)cgG>cgT	p.R731R	NLRP3_ENST00000336119.3_Silent_p.R731R|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.R731R|NLRP3_ENST00000366496.2_Silent_p.R731R|NLRP3_ENST00000391827.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	788					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTTTTTGCCGGGGCCTCTTTT	0.478000													19	151					1.2644e-06	1.59754e-06	0.592651	1	0
ABCF3	55324	broad.mit.edu	37	3	183905677	183905677	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:183905677G>T	ENST00000429586.2	+	6	660	c.475G>T	c.(475-477)Gca>Tca	p.A159S	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.A153S	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	159							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCAGCCAGGCAGGCAGCAG	0.493000													11	47					6.72482e-11	1.00634e-10	0.479597	1	0
OR6C75	390323	broad.mit.edu	37	12	55759235	55759235	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:55759235C>A	ENST00000343399.3	+	1	341	c.341C>A	c.(340-342)gCt>gAt	p.A114D		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TACCTTCTGGCTGCCATGTCC	0.453000													9	87					0.00448238	0.00480093	0.307466	1	0
PTCHD2	57540	broad.mit.edu	37	1	11574470	11574470	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:11574470G>T	ENST00000294484.6	+	4	1478	c.1340G>T	c.(1339-1341)gGg>gTg	p.G447V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G447V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	447					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCTATGGGGGGACAGACCTG	0.512000													10	49					2.17888e-05	2.58283e-05	0.335167	1	0
RTTN	25914	broad.mit.edu	37	18	67809534	67809534	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:67809534C>A	ENST00000255674.6	-	19	2857	c.2571G>T	c.(2569-2571)gtG>gtT	p.V857V	RTTN_ENST00000437017.1_Silent_p.V857V|RTTN_ENST00000454359.1_Silent_p.V857V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	857							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTGCATAATCACAGCTAACT	0.383000													12	65					0.105934	0.107981	0.435327	1	0
ZNF182	7569	broad.mit.edu	37	X	47835972	47835972	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:47835972T>C	ENST00000396965.1	-	7	1864	c.1514A>G	c.(1513-1515)cAa>cGa	p.Q505R	ZNF182_ENST00000376943.3_Missense_Mutation_p.Q486R|ZNF182_ENST00000305127.6_Missense_Mutation_p.Q505R	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATGAGTTCTTTGATGTATAAT	0.358000													7	31					0	0	0.248553	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850352	25850352	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:25850352C>A	ENST00000397060.4	-	9	1156	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V	SLC17A3_ENST00000360657.3_Silent_p.V271V|SLC17A3_ENST00000361703.6_Silent_p.V271V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	271					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						GATAGCCTCCCACCATGCCTA	0.408000													16	66					1.45105e-14	2.4108e-14	0.539581	1	0
UGT2A2	574537	broad.mit.edu	37	4	70505129	70505129	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:70505129G>C	ENST00000457664.2	-	1	229	c.230C>G	c.(229-231)cCt>cGt	p.P77R	UGT2A1_ENST00000514019.1_Missense_Mutation_p.P278R|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000503640.1_Intron	NM_001105677.2	NP_001099147.2																					AAAATTCACAGGAGAATCGGG	0.358000													60	180					0	0	0.870114	0	0
IMPG2	50939	broad.mit.edu	37	3	100963518	100963518	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:100963518C>A	ENST00000193391.7	-	13	1844	c.1657G>T	c.(1657-1659)Gtg>Ttg	p.V553L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	553					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTTAAGGACACATCAGAGTCT	0.398000													49	172					2.69774e-35	5.10515e-35	0.870114	1	0
SYNE1	23345	broad.mit.edu	37	6	152861101	152861101	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:152861101C>A	ENST00000367255.5	-	4	724	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SYNE1_ENST00000423061.1_Silent_p.L41L|SYNE1_ENST00000466159.2_Silent_p.L41L|SYNE1_ENST00000367253.4_Silent_p.L41L|SYNE1_ENST00000341594.5_Silent_p.L41L|SYNE1_ENST00000265368.4_Silent_p.L41L|SYNE1_ENST00000413186.2_Silent_p.L41L|SYNE1_ENST00000448038.1_Silent_p.L41L|SYNE1_ENST00000367248.3_Silent_p.L41L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	41	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTACCTTGGCCAGATGAGAGT	0.353000										HNSCC(10;0.0054)			16	55					2.94398e-08	3.99473e-08	0.557998	1	0
SLC35F4	341880	broad.mit.edu	37	14	58033208	58033208	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:58033208C>T	ENST00000556826.1	-	7	1437	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	SLC35F4_ENST00000339762.6_Missense_Mutation_p.V437I|SLC35F4_ENST00000554729.1_Missense_Mutation_p.V278I	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCCAGGAACGCTGAGCACT	0.483000													7	14					0	0	0.278610	0	0
ZNF732	654254	broad.mit.edu	37	4	289266	289266	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:289266A>G	ENST00000419098.1	-	3	197	c.187T>C	c.(187-189)Tac>Cac	p.Y63H		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCACTTTGTAGGGCTCCTTT	0.458000													6	17					0	0	0.278610	0	0
GHR	2690	broad.mit.edu	37	5	42689048	42689048	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:42689048T>C	ENST00000230882.4	+	4	383	c.193T>C	c.(193-195)Tca>Cca	p.S65P	GHR_ENST00000357703.3_Missense_Mutation_p.S43P|GHR_ENST00000537449.1_Intron	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	65					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)	AGAGACTTTTTCATGCCACTG	0.443000													41	143					0	0	0.853193	0	0
PCDH10	57575	broad.mit.edu	37	4	134072874	134072874	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:134072874G>C	ENST00000264360.4	+	1	2405	c.1579G>C	c.(1579-1581)Gcc>Ccc	p.A527P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	527	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTACTTGTACGCCCTGCGCTC	0.587000													6	43					0	0	0.217242	0	0
ERBB4	2066	broad.mit.edu	37	2	212566794	212566794	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:212566794T>G	ENST00000342788.4	-	12	1697	c.1387A>C	c.(1387-1389)Aac>Cac	p.N463H	ERBB4_ENST00000402597.1_Missense_Mutation_p.N463H|ERBB4_ENST00000436443.1_Missense_Mutation_p.N463H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	463					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGTTGCTGTTGTCAGTAATA	0.433000										TSP Lung(8;0.080)			11	98					0	0	0.387290	0	0
CMTR2	55783	broad.mit.edu	37	16	71318329	71318329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:71318329C>A	ENST00000338099.5	-	3	1831	c.1495G>T	c.(1495-1497)Gga>Tga	p.G499*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G499*			Q8IYT2	FTSJ1_HUMAN		499						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTTTCTTTCCCTCCAAAATA	0.363000													35	56					9.78485e-24	1.81903e-23	0.769981	1	0
HMCN1	83872	broad.mit.edu	37	1	186141192	186141192	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:186141192C>G	ENST00000271588.4	+	102	15972	c.15743C>G	c.(15742-15744)aCc>aGc	p.T5248S	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5248S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5248	EGF-like 4; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTAAGAACACCCGTGGTGGC	0.393000													15	124					0	0	0.479597	0	0
OR8H2	390151	broad.mit.edu	37	11	55873058	55873058	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:55873058C>G	ENST00000313503.1	+	1	540	c.540C>G	c.(538-540)gaC>gaG	p.D180E		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTTCTGTGACACTTCCCCAA	0.413000										HNSCC(53;0.14)			23	168					0	0	0.864702	0	0
CDH9	1007	broad.mit.edu	37	5	26881306	26881306	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:26881306C>A	ENST00000231021.4	-	12	2481	c.2309G>T	c.(2308-2310)tGg>tTg	p.W770L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	770					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						ACGAGGCCCCCAGTCACTGAG	0.418000													4	112					3.10358e-05	3.66866e-05	0.624587	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26084302	26084302	+	RNA	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:26084302T>A	ENST00000478176.1	-	0	155					NR_003678.1																						CTCCAAATGCTGGATCCTTTA	0.393000													5	81					0	0	0.184627	0	0
GRM1	2911	broad.mit.edu	37	6	146755823	146755823	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:146755823G>C	ENST00000361719.2	+	9	3946	c.3476G>C	c.(3475-3477)aGc>aCc	p.S1159T	GRM1_ENST00000282753.1_Missense_Mutation_p.S1159T|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1159	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCTCGGGCAGCTCGGTGCCC	0.657000													13	53					0	0	0.457914	0	0
SRRM2	23524	broad.mit.edu	37	16	2816129	2816129	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:2816129G>T	ENST00000301740.8	+	11	6149	c.5600G>T	c.(5599-5601)cGa>cTa	p.R1867L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1867	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTAGATCTCGAGCCTCTCCA	0.622000													18	77					1.99824e-07	2.61881e-07	0.520397	1	0
AMER1	139285	broad.mit.edu	37	X	63410856	63410856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:63410856G>A	ENST00000330258.3	-	2	2583	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q771*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q771*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ACCAGGGCCTGTGAGAAACTC	0.532000													9	44					0	0	0.307466	0	0
MYH1	4619	broad.mit.edu	37	17	10397987	10397987	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:10397987G>T	ENST00000226207.5	-	38	5564	c.5470C>A	c.(5470-5472)Cgt>Agt	p.R1824S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1824						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						TCAAGTTCACGAACCTACAAG	0.388000													11	70					3.07112e-06	3.80062e-06	0.387290	1	0
GLI3	2737	broad.mit.edu	37	7	42005031	42005031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:42005031G>A	ENST00000395925.3	-	15	3724	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1214					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGAGGGTCTGATAGCCCCCA	0.652000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	52					0	0	0.335167	0	0
MEOX2	4223	broad.mit.edu	37	7	15725982	15725982	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:15725982C>T	ENST00000262041.5	-	1	455	c.46G>A	c.(46-48)Gcg>Acg	p.A16T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	16					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AAGCCTTGCGCCGTGGCGTGA	0.572000													6	8					0	0	0.307466	0	0
MASTL	84930	broad.mit.edu	37	10	27459686	27459686	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:27459686G>C	ENST00000375946.4	+	8	2401	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.E600Q|MASTL_ENST00000375940.4_Missense_Mutation_p.E600Q	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	600	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.E600K(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTCTTTTGAAGAATCAAA	0.373000													3	36					0	0	0.150653	0	0
GCDH	2639	broad.mit.edu	37	19	13002761	13002761	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:13002761C>T	ENST00000222214.5	+	4	455	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	GCDH_ENST00000422947.2_Silent_p.L19L|GCDH_ENST00000591470.1_Missense_Mutation_p.R82C|GCDH_ENST00000457854.1_Missense_Mutation_p.R82C			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	82					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTCATGCCTCGCATCCTGTT	0.637000													8	47					0	0	0.335167	0	0
CSMD1	64478	broad.mit.edu	37	8	2910077	2910077	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:2910077C>T	ENST00000602557.1	-	51	8125	c.7570G>A	c.(7570-7572)Gag>Aag	p.E2524K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E2524K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2523K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E2524K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2524K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2523K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2524	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGAAGCCCTCATGACATTCA	0.502000													3	34					0	0	0.115264	0	0
ACOT12	134526	broad.mit.edu	37	5	80655813	80655813	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:80655813C>A	ENST00000307624.3	-	5	433	c.405G>T	c.(403-405)gtG>gtT	p.V135V	ACOT12_ENST00000513751.1_Silent_p.V135V	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	135					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GATTATGTTCCACATGATCTT	0.323000													7	27					0.00198382	0.0021411	0.248553	1	0
COL6A3	1293	broad.mit.edu	37	2	238274590	238274590	+	Missense_Mutation	SNP	G	G	T	rs144592806		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:238274590G>T	ENST00000295550.4	-	12	6041	c.5589C>A	c.(5587-5589)gaC>gaA	p.D1863E	COL6A3_ENST00000409809.1_Missense_Mutation_p.D1657E|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1256E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1657E|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1662E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1663E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1863	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAAGATGGCGTCCACCTTGG	0.572000													32	107					1.22384e-17	2.16091e-17	0.769981	1	0
MARK1	4139	broad.mit.edu	37	1	220804410	220804410	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:220804410C>T	ENST00000402574.1	+	10	1540	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	MARK1_ENST00000366918.4_Missense_Mutation_p.H293Y|MARK1_ENST00000366917.4_Missense_Mutation_p.H315Y	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	315	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAATGTTGGTCATGAAGAGGA	0.358000													5	35					0	0	0.217242	0	0
ERO1L	30001	broad.mit.edu	37	14	53119002	53119002	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:53119002C>T	ENST00000395686.3	-	13	1303	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	360					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AAAATGAATTCTCATCAAAAT	0.284000													16	42					0	0	0.557998	0	0
OR2K2	26248	broad.mit.edu	37	9	114090037	114090037	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:114090037C>G	ENST00000374428.1	-	1	763	c.764G>C	c.(763-765)aGa>aCa	p.R255T	OR2K2_ENST00000302681.1_Missense_Mutation_p.R226T			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGAGGTGATTCTCAGAATAGT	0.448000													5	77					0	0	0.184627	0	0
PCCB	5096	broad.mit.edu	37	3	136019916	136019916	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:136019916C>T	ENST00000471595.1	+	9	947	c.929C>T	c.(928-930)tCa>tTa	p.S310L	PCCB_ENST00000490504.1_Missense_Mutation_p.S253L|PCCB_ENST00000469217.1_Missense_Mutation_p.S330L|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Missense_Mutation_p.S310L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000483687.1_Missense_Mutation_p.S291L|PCCB_ENST00000462637.1_Missense_Mutation_p.S287L|PCCB_ENST00000251654.4_Missense_Mutation_p.S310L|PCCB_ENST00000468777.1_Missense_Mutation_p.S341L|PCCB_ENST00000482086.1_Missense_Mutation_p.S194L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	310	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.S310L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCTTTGGAATCAACCAAAGCC	0.458000													6	50					0	0	0.248553	0	0
OR5M11	219487	broad.mit.edu	37	11	56310158	56310158	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:56310158A>T	ENST00000528616.2	-	1	599	c.576T>A	c.(574-576)taT>taA	p.Y192*		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTCTTTGACATAAGTATCAG	0.502000													8	73					0	0	0.278610	0	0
SHOX	6473	broad.mit.edu	37	X	591680	591680	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:591680C>A	ENST00000381578.1	+	2	739	c.48C>A	c.(46-48)agC>agA	p.S16R	SHOX_ENST00000334060.3_Missense_Mutation_p.S16R|SHOX_ENST00000381575.1_Missense_Mutation_p.S16R|SHOX_ENST00000554971.1_Missense_Mutation_p.S16R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	16					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				ACCAGAAAAGCAAGGACGGTA	0.637000													3	8					2.56e-06	3.18678e-06	0.150653	1	0
TMF1	7110	broad.mit.edu	37	3	69087813	69087813	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:69087813C>A	ENST00000543976.1	-	8	2308	c.2062G>T	c.(2062-2064)Gct>Tct	p.A688S	CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.A685S|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	685					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CGGCTCAGAGCAGCTTCCTGT	0.413000													12	63					1.3612e-06	1.71471e-06	0.479597	1	0
DUSP13	51207	broad.mit.edu	37	10	76861638	76861638	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:76861638T>A	ENST00000491677.2	-	5	915	c.373A>T	c.(373-375)Aga>Tga	p.R125*	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Nonsense_Mutation_p.R89*|DUSP13_ENST00000372700.3_Intron	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGGAGTATCTGGCCCAGGCT	0.552000													7	53					0	0	0.248553	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402024	197402024	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:197402024G>A	ENST00000273582.5	-	21	3194	c.2649C>T	c.(2647-2649)agC>agT	p.S883S	KIAA0226_ENST00000296343.5_Silent_p.S928S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	928	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGCGCGGACAGCTTCCAGACT	0.577000													6	41					0	0	0.307466	0	0
PGAP1	80055	broad.mit.edu	37	2	197791263	197791263	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:197791263C>G	ENST00000354764.3	-	1	192	c.78G>C	c.(76-78)tgG>tgC	p.W26C	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.W26C|PGAP1_ENST00000409188.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	26					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGAAGACATCCCACAGCCCCA	0.547000													58	273					0	0	0.870114	0	0
ATR	545	broad.mit.edu	37	3	142279274	142279274	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:142279274G>T	ENST00000350721.4	-	6	1493	c.1372C>A	c.(1372-1374)Caa>Aaa	p.Q458K	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	458					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						ATGCTCTTTTGGTTCATGTCC	0.303000								Other conserved DNA damage response genes					15	49					0.000219431	0.000246933	0.457914	1	0
GMEB1	10691	broad.mit.edu	37	1	29030714	29030714	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:29030714G>C	ENST00000373816.1	+	8	879	c.741G>C	c.(739-741)ttG>ttC	p.L247F	GMEB1_ENST00000361872.4_Missense_Mutation_p.L247F|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.L257F	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACACTTTGATGTTCTGGA	0.418000													5	49					0	0	0.217242	0	0
DEK	7913	broad.mit.edu	37	6	18250029	18250029	+	Silent	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:18250029T>C	ENST00000397239.3	-	7	1062	c.615A>G	c.(613-615)aaA>aaG	p.K205K	DEK_ENST00000244776.7_Silent_p.K171K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	205					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCGTTCCTTTTTACTGCCTT	0.343000			T	NUP214	AML								9	29					0	0	0.411799	0	0
MROH5	389690	broad.mit.edu	37	8	142487923	142487923	+	RNA	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:142487923G>T	ENST00000430863.1	-	0	1398					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TCGTAGCTGTGGGCGCCCTCA	0.637000													11	19					9.31168e-06	1.11952e-05	0.435327	1	0
FAT3	120114	broad.mit.edu	37	11	92086011	92086011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:92086011G>T	ENST00000298047.6	+	1	750	c.733G>T	c.(733-735)Gga>Tga	p.G245*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.G245*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.G245*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.G95*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	245	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)				TGGGAACAATGGAGTGAGCAG	0.403000										TCGA Ovarian(4;0.039)			46	199					2.52991e-16	4.37549e-16	0.870114	1	0
SCN4A	6329	broad.mit.edu	37	17	62022909	62022909	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:62022909C>A	ENST00000578147.1	-	19	3607	c.3531G>T	c.(3529-3531)atG>atT	p.M1177I	SCN4A_ENST00000435607.1_Missense_Mutation_p.M1177I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1177					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M1177I(1)		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)	GGTTGACACCCATGATGCTGA	0.552000													22	294					2.41591e-17	4.24798e-17	0.681144	1	0
LCE3E	353145	broad.mit.edu	37	1	152538444	152538444	+	Missense_Mutation	SNP	C	C	A	rs145382354	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:152538444C>A	ENST00000368789.1	-	2	296	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	81					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CAGCCAGAGCCCCCGCCTTGC	0.627000													27	100					5.60225e-13	8.98916e-13	0.740014	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41442056	41442056	+	RNA	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:41442056G>T	ENST00000599198.1	+	0	280					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GAGGCCCGTGGTCATGCTGTG	0.577000													13	54					9.16793e-09	1.28108e-08	0.520397	1	0
GPR148	344561	broad.mit.edu	37	2	131487730	131487730	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:131487730C>A	ENST00000309926.4	+	1	1088	c.1006C>A	c.(1006-1008)Cca>Aca	p.P336T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	336						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGGCCACCTCCCATCCAGGAG	0.532000													5	25					8.12818e-05	9.27052e-05	0.248553	1	0
KDM4C	23081	broad.mit.edu	37	9	6984406	6984406	+	Splice_Site	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:6984406T>C	ENST00000381309.3	+	10	1919		c.e10+2		KDM4C_ENST00000543771.1_Splice_Site|KDM4C_ENST00000428870.2_Splice_Site|KDM4C_ENST00000535193.1_Splice_Site|KDM4C_ENST00000536108.1_Splice_Site|KDM4C_ENST00000381306.3_Splice_Site|KDM4C_ENST00000442236.2_Splice_Site	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AACTCTCAGGTGAGAAGATGG	0.408000													3	121					0	0	0.150653	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19201071	19201071	+	Missense_Mutation	SNP	C	C	T	rs150916561	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:19201071C>T	ENST00000375341.3	-	14	1722	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V429I|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V438I|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V489I	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	489					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TCCTGCACGACGTCCCTACAA	0.602000													15	73					0	0	0.520397	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520444	72520444	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:72520444G>T	ENST00000373208.1	+	22	3516	c.3516G>T	c.(3514-3516)gaG>gaT	p.E1172D	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.E1169D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1169	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGCCCCTGAGACACCAATCC	0.632000													8	46					0.000274275	0.00030379	0.307466	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159367	18159367	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:18159367C>A	ENST00000396275.2	+	3	979	c.618C>A	c.(616-618)tcC>tcA	p.S206S		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	206						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCTGTGGATCCCGGAAGATGC	0.542000													28	53					2.65835e-16	4.54179e-16	0.717897	1	0
GRIP2	80852	broad.mit.edu	37	3	14552740	14552740	+	RNA	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:14552740G>T	ENST00000273083.3	-	0	1930							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGATTTGCACGGCGTCCTCCA	0.617000													5	22					0.014758	0.0153019	0.184627	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745597	37745597	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:37745597G>T	ENST00000539465.1	+	16	4161	c.3568G>T	c.(3568-3570)Ggg>Tgg	p.G1190W	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G1190W			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1190						cytoskeleton|cytosol|plasma membrane		p.G1190W(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAACCCCCAGGGCAAGGCTG	0.512000													14	51					3.27435e-08	4.42877e-08	0.457914	1	0
PXDNL	137902	broad.mit.edu	37	8	52232477	52232477	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:52232477G>T	ENST00000356297.4	-	23	4466	c.4366C>A	c.(4366-4368)Cca>Aca	p.P1456T	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1456					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAATCACTTGGCATTCCTCGG	0.488000													4	34					0.184627	0.186394	0.184627	1	0
OR10G7	390265	broad.mit.edu	37	11	123909453	123909453	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:123909453G>T	ENST00000330487.5	-	1	264	c.256C>A	c.(256-258)Cca>Aca	p.P86T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGCCGCTTGGGGACACCAAG	0.532000													36	199					4.67007e-22	8.49469e-22	0.840704	1	0
APOBEC2	10930	broad.mit.edu	37	6	41029415	41029415	+	Silent	SNP	G	G	A	rs140342245	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:41029415G>A	ENST00000244669.2	+	2	524	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	160					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	p.P160P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGAGGAGCCGGAGATCCAGG	0.537000													21	97					0	0	0.608945	0	0
DNAH5	1767	broad.mit.edu	37	5	13792291	13792291	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:13792291C>A	ENST00000265104.4	-	50	8364	c.8260G>T	c.(8260-8262)Ggt>Tgt	p.G2754C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2754	AAA 3 (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)					TCTGAGAAACCCCTCTGAGTA	0.423000									Kartagener syndrome				7	62					5.4927e-09	7.77826e-09	0.307466	1	0
TOMM7	54543	broad.mit.edu	37	7	22852767	22852767	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:22852767A>C	ENST00000372879.4	-	4	338	c.327T>G	c.(325-327)gaT>gaG	p.D109E	TOMM7_ENST00000405021.3_3'UTR|TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000358435.4_3'UTR			Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)	0					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			skin(1)	1						TTGCCTCCAAATCCAGAAGAC	0.408000													5	70					0	0	0.217242	0	0
VPRBP	9730	broad.mit.edu	37	3	51457540	51457540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:51457540C>A	ENST00000335891.5	-	7	1546	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	962					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GATGGCCTCTCTCTGATAAAA	0.552000													27	106					1.26612e-14	2.11186e-14	0.779181	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302381	28302381	+	Splice_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:28302381C>A	ENST00000284987.5	-	7	2171		c.e7-1		AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5						proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CATCGGTCACCTGAATCATGG	0.453000													36	105					2.2871e-25	4.27059e-25	0.834066	1	0
KCNC1	3746	broad.mit.edu	37	11	17793919	17793919	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:17793919C>T	ENST00000379472.3	+	2	1308	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	KCNC1_ENST00000265969.6_Silent_p.L426L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	426						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGGGCGTGCTCACCATCGCCA	0.567000													8	64					0	0	0.307466	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722395	64722395	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:64722395C>T	ENST00000338957.4	+	5	1884	c.1817C>T	c.(1816-1818)gCt>gTt	p.A606V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.A595V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	595							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGCTGTAGCTGATACCCAT	0.498000													13	81					0	0	0.479597	0	0
LY9	4063	broad.mit.edu	37	1	160771579	160771579	+	Splice_Site	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:160771579G>A	ENST00000368039.2	+	3	455		c.e3-1		LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			aattttcccagcaccatttat	0.453000													29	49					0	0	0.796494	0	0
TMTC1	83857	broad.mit.edu	37	12	29736468	29736468	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:29736468C>A	ENST00000256062.5	-	8	1439	c.966G>T	c.(964-966)aaG>aaT	p.K322N	TMTC1_ENST00000552618.1_Missense_Mutation_p.K492N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.K384N|TMTC1_ENST00000551659.1_Missense_Mutation_p.K492N|TMTC1_ENST00000539277.1_Missense_Mutation_p.K430N	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	430						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAGTGCAGAGCTTGCTCAGTC	0.498000													24	53					2.44723e-14	4.01841e-14	0.681144	1	0
FAM46D	169966	broad.mit.edu	37	X	79698584	79698584	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:79698584C>A	ENST00000538312.1	+	5	880	c.546C>A	c.(544-546)ccC>ccA	p.P182P	FAM46D_ENST00000308293.5_Silent_p.P182P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	182										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTTTGGATCCCATGTTAGACT	0.373000													27	71					1.77063e-15	2.98883e-15	0.693898	1	0
TRERF1	55809	broad.mit.edu	37	6	42236657	42236657	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:42236657C>A	ENST00000541110.1	-	5	1240	c.672G>T	c.(670-672)ggG>ggT	p.G224G	TRERF1_ENST00000372922.4_Silent_p.G224G|TRERF1_ENST00000340840.2_Silent_p.G224G|TRERF1_ENST00000354325.2_Silent_p.G224G|TRERF1_ENST00000372917.4_Silent_p.G224G			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	224	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGGGTGCTGCCCGACCTGAA	0.632000													36	72					4.14481e-20	7.41148e-20	0.819951	1	0
FGD2	221472	broad.mit.edu	37	6	36981398	36981398	+	Missense_Mutation	SNP	C	C	A	rs151050710		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:36981398C>A	ENST00000274963.8	+	5	712	c.541C>A	c.(541-543)Cgc>Agc	p.R181S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	181	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						AGCTAACCCCCGCATCGGTGA	0.597000													20	45					1.55795e-14	2.56818e-14	0.608945	1	0
AP1M2	10053	broad.mit.edu	37	19	10692546	10692546	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:10692546G>A	ENST00000590923.1	-	4	359	c.276C>T	c.(274-276)tgC>tgT	p.C92C	AP1M2_ENST00000250244.6_Silent_p.C92C			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	92					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGAAGTATTCGCAGAATACCT	0.552000													3	16					0	0	0.150653	0	0
FGD2	221472	broad.mit.edu	37	6	36981397	36981397	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:36981397C>A	ENST00000274963.8	+	5	711	c.540C>A	c.(538-540)ccC>ccA	p.P180P		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	180	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						CAGCTAACCCCCGCATCGGTG	0.597000													19	46					1.55795e-14	2.56818e-14	0.608945	1	0
TMEM2	23670	broad.mit.edu	37	9	74347398	74347398	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:74347398C>A	ENST00000377044.4	-	7	1971	c.1432G>T	c.(1432-1434)Ggt>Tgt	p.G478C	TMEM2_ENST00000377066.5_Missense_Mutation_p.G415C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	478						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGTCTACACCGTCTATGATC	0.413000													12	54					7.03913e-09	9.86881e-09	0.411799	1	0
GSG1L	146395	broad.mit.edu	37	16	27840244	27840244	+	Silent	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:27840244T>A	ENST00000380898.2	-	5	780	c.231A>T	c.(229-231)gcA>gcT	p.A77A	GSG1L_ENST00000395724.3_Silent_p.A181A|GSG1L_ENST00000569166.1_Silent_p.A77A|GSG1L_ENST00000380897.3_Silent_p.A77A|GSG1L_ENST00000447459.2_Silent_p.A232A			Q6UXU4	GSG1L_HUMAN	GSG1-like	232						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TGACAGAGGCTGCCATGCAGC	0.587000													8	41					0	0	0.307466	0	0
OR5M11	219487	broad.mit.edu	37	11	56310375	56310375	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:56310375T>G	ENST00000528616.2	-	1	382	c.359A>C	c.(358-360)gAc>gCc	p.D120A		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACATAGCGGTCATAGGCCAT	0.468000													10	70					0	0	0.361761	0	0
KRT23	25984	broad.mit.edu	37	17	39081682	39081682	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:39081682C>A	ENST00000209718.3	-	7	1490	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	KRT23_ENST00000436344.3_Missense_Mutation_p.V219L|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	356	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCCAGCAGCACTTGGTATTCA	0.552000													22	64					2.21704e-12	3.45236e-12	0.639603	1	0
SYNE1	23345	broad.mit.edu	37	6	152861100	152861100	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:152861100C>A	ENST00000367255.5	-	4	725	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	SYNE1_ENST00000423061.1_Missense_Mutation_p.A42S|SYNE1_ENST00000466159.2_Missense_Mutation_p.A42S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A42S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A42S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A42S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A42S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A42S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A42S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	42	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTACCTTGGCCAGATGAGAG	0.353000										HNSCC(10;0.0054)			16	56					2.94398e-08	3.99473e-08	0.557998	1	0
OPN1SW	611	broad.mit.edu	37	7	128415641	128415641	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:128415641G>T	ENST00000249389.2	-	1	203	c.204C>A	c.(202-204)ccC>ccA	p.P68P		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	68					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TGTAGTTGAGGGGCTGCCGCA	0.542000													11	84					2.23348e-06	2.78855e-06	0.500413	1	0
TTN	7273	broad.mit.edu	37	2	179424246	179424246	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:179424246G>T	ENST00000589042.1	-	326	86837	c.86613C>A	c.(86611-86613)aaC>aaA	p.N28871K	TTN_ENST00000342175.6_Missense_Mutation_p.N19998K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N27230K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N19806K|TTN_ENST00000342992.6_Missense_Mutation_p.N26303K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N19931K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27230	Fibronectin type-III 110.						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)			CTCCACCATCGTTTTCAGGAA	0.458000													39	155					3.61848e-18	6.41596e-18	0.834066	1	0
LRRC66	339977	broad.mit.edu	37	4	52861508	52861508	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:52861508G>T	ENST00000343457.3	-	4	1686	c.1680C>A	c.(1678-1680)ggC>ggA	p.G560G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	560						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CGTGAGACGTGCCAGCTACAG	0.483000													24	150					4.54149e-19	8.08653e-19	0.624587	1	0
MET	4233	broad.mit.edu	37	7	116435746	116435746	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:116435746G>T	ENST00000397752.3	+	20	4036	c.3836G>T	c.(3835-3837)aGa>aTa	p.R1279I	MET_ENST00000539704.1_Missense_Mutation_p.R149I|MET_ENST00000318493.6_Missense_Mutation_p.R1297I	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1279	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGATGACAAGAGGAGCCCCA	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	271					2.35188e-11	3.59599e-11	0.539581	1	0
OTOA	146183	broad.mit.edu	37	16	21771800	21771800	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:21771800A>T	ENST00000388958.3	+	28	3360	c.3359A>T	c.(3358-3360)cAg>cTg	p.Q1120L	OTOA_ENST00000388956.4_Missense_Mutation_p.Q1041L|OTOA_ENST00000286149.4_Missense_Mutation_p.Q1134L|OTOA_ENST00000388957.3_Missense_Mutation_p.Q796L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	1134					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGCTCTCCAGTCGTGGGGT	0.522000													3	31					0	0	0.115264	0	0
STK39	27347	broad.mit.edu	37	2	168931721	168931721	+	Silent	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:168931721T>A	ENST00000355999.4	-	11	1815	c.1110A>T	c.(1108-1110)tcA>tcT	p.S370S	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	370					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GGTGACCACTTGACCCAGGAA	0.468000													34	142					0	0	0.769981	0	0
GPR179	440435	broad.mit.edu	37	17	36485475	36485475	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:36485475G>A	ENST00000342292.4	-	11	3997	c.3977C>T	c.(3976-3978)gCc>gTc	p.A1326V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1326						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTCGATCGGCACTCTCCCA	0.602000													3	29					0	0	0.150653	0	0
KDM7A	80853	broad.mit.edu	37	7	139833408	139833408	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:139833408T>A	ENST00000397560.2	-	3	426	c.329A>T	c.(328-330)gAt>gTt	p.D110V	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D110V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		110	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTGGAACCATCATCAATTTC	0.353000													5	33					0	0	0.217242	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842725	128842725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:128842725G>A	ENST00000310343.9	-	21	3633	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q863*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q863*|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1212					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGAGGCTGATCTCCACTG	0.453000													20	41					0	0	0.557998	0	0
KIAA0226	9711	broad.mit.edu	37	3	197428579	197428579	+	Splice_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:197428579C>A	ENST00000273582.5	-	6	1092	c.547_splice	c.e6+1	p.E183_splice	KIAA0226_ENST00000389665.5_Splice_Site_p.E243_splice|KIAA0226_ENST00000449205.1_Splice_Site_p.E243_splice|KIAA0226_ENST00000296343.5_Splice_Site_p.E243_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	243	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTCCCCATACCTGAGCCATTG	0.493000													8	31					2.17888e-05	2.58283e-05	0.335167	1	0
MMP9	4318	broad.mit.edu	37	20	44641100	44641100	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:44641100C>T	ENST00000372330.3	+	8	1228	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	403					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCATGAGTTCGGCCACGCGC	0.647000													18	43					0	0	0.557998	0	0
CDH9	1007	broad.mit.edu	37	5	26881305	26881305	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:26881305C>A	ENST00000231021.4	-	12	2482	c.2310G>T	c.(2308-2310)tgG>tgT	p.W770C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	770					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						AACGAGGCCCCCAGTCACTGA	0.418000													5	115					3.83957e-06	4.73771e-06	0.639603	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106061994	106061994	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:106061994A>G	ENST00000357242.5	+	2	406	c.232A>G	c.(232-234)Att>Gtt	p.I78V	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.I78V|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I78V|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I78V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	78						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTACTTGTCAATTGCATGTGG	0.358000													3	81					0	0	0.115264	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893528	118893528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:118893528C>T	ENST00000343905.3	+	1	953	c.898C>T	c.(898-900)Caa>Taa	p.Q300*		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	300																	CCGGGTGGCGCAAATGCATAG	0.652000													5	11					0	0	0.248553	0	0
CFH	3075	broad.mit.edu	37	1	196646637	196646637	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:196646637G>A	ENST00000367429.4	+	5	699	c.459G>A	c.(457-459)gaG>gaA	p.E153E	CFH_ENST00000439155.2_Silent_p.E153E|CFH_ENST00000359637.2_Intron	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	153	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGCACCAGAGAATGGAAAAA	0.353000													9	106					0	0	0.335167	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1334426	1334426	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:1334426G>A	ENST00000320895.5	-	7	1126	c.869C>T	c.(868-870)aCc>aTc	p.T290I	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.T290I|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.T157I	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	290					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GACAAAGAAGGTCAGCGCCAG	0.527000													3	33					0	0	0.150653	0	0
TFDP3	51270	broad.mit.edu	37	X	132352132	132352132	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:132352132G>A	ENST00000310125.4	-	1	244	c.156C>T	c.(154-156)aaC>aaT	p.N52N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	52						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCTGGTCAATGTTGACACTGG	0.567000													11	53					0	0	0.387290	0	0
TPTE	7179	broad.mit.edu	37	21	10934115	10934115	+	Nonsense_Mutation	SNP	T	T	A	rs149333450		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:10934115T>A	ENST00000298232.7	-	15	1175	c.808A>T	c.(808-810)Aga>Tga	p.R270*	TPTE_ENST00000361285.4_Nonsense_Mutation_p.R288*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R250*|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	288	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGTAAGCTCTTTCACCTAAA	0.303000													8	88					0	0	0.307466	0	0
GMPS	8833	broad.mit.edu	37	3	155649577	155649577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:155649577C>A	ENST00000496455.1	+	13	1919	c.1584C>A	c.(1582-1584)taC>taA	p.Y528*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.Y429*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	528					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353000			T	MLL	AML								25	116					1.38267e-23	2.55915e-23	0.693898	1	0
PAK6	56924	broad.mit.edu	37	15	40566420	40566420	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:40566420G>A	ENST00000560346.1	+	10	2404	c.1821G>A	c.(1819-1821)gtG>gtA	p.V607V	PAK6_ENST00000260404.4_Silent_p.V607V|PAK6_ENST00000441369.1_Silent_p.V607V|PAK6_ENST00000453867.1_Silent_p.V607V|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000542403.2_Silent_p.V607V			Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	607	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACTCCCCAGTGCAAGCCATGA	0.562000											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	3					0	0	0.278610	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255726	140255726	+	Silent	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140255726A>G	ENST00000398631.2	+	1	669	c.669A>G	c.(667-669)acA>acG	p.T223T	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAACTAACAGGGTCTGTCC	0.418000													10	43					0	0	0.335167	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142634833	142634833	+	RNA	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:142634833C>T	ENST00000369381.2	-	0	4648				RP11-417J8.3_ENST00000426408.1_lincRNA																							ctttattgagcaacagtacag	0.542000													3	12					0	0	0.184627	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875607	62875607	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:62875607C>A	ENST00000253401.6	-	8	1867	c.1067G>T	c.(1066-1068)cGg>cTg	p.R356L	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R254L|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R354L|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R335L|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R303L|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R83L	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	356	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R354L(1)|p.R356L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GATGTCTCTCCGGATTAGGTC	0.468000													54	188					3.76628e-20	6.79219e-20	0.870114	1	0
SLC47A1	55244	broad.mit.edu	37	17	19445804	19445804	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:19445804C>A	ENST00000270570.4	+	2	320	c.234C>A	c.(232-234)atC>atA	p.I78I	SLC47A1_ENST00000575023.1_Silent_p.I78I|SLC47A1_ENST00000436810.2_Silent_p.I78I|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000542886.1_Silent_p.I78I|SLC47A1_ENST00000457293.1_Silent_p.I78I|SLC47A1_ENST00000395585.1_Silent_p.I78I|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	78						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CGCTGGCAATCGCGGTACGTG	0.502000													10	29					0.000673444	0.000730574	0.361761	1	0
GDNF	2668	broad.mit.edu	37	5	37815778	37815778	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:37815778G>T	ENST00000326524.2	-	3	810	c.611C>A	c.(610-612)tCc>tAc	p.S204Y	GDNF_ENST00000344622.4_Missense_Mutation_p.S178Y|GDNF_ENST00000427982.1_Missense_Mutation_p.S221Y|GDNF_ENST00000515058.1_Missense_Mutation_p.S178Y|GDNF_ENST00000381826.4_Missense_Mutation_p.S195Y	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	204					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CCTTTTAGCGGAATGCTTTCT	0.463000													29	97					1.50538e-07	1.99144e-07	0.706142	1	0
HGF	3082	broad.mit.edu	37	7	81346652	81346652	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:81346652T>G	ENST00000222390.5	-	11	1527	c.1301A>C	c.(1300-1302)aAg>aCg	p.K434T	HGF_ENST00000457544.2_Missense_Mutation_p.K429T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTCATTCAGCTTACTTGCATC	0.428000													14	78					0	0	0.479597	0	0
AMHR2	269	broad.mit.edu	37	12	53818674	53818674	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:53818674G>T	ENST00000257863.4	+	3	494	c.414G>T	c.(412-414)caG>caT	p.Q138H	AMHR2_ENST00000550311.1_Missense_Mutation_p.Q138H|AMHR2_ENST00000379791.3_Missense_Mutation_p.Q138H	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	138					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGGGTCCCCAGGCTGCCCCAG	0.627000													21	55					4.96729e-08	6.65459e-08	0.575678	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744814	140744814	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140744814C>T	ENST00000518069.1	+	1	917	c.917C>T	c.(916-918)tCa>tTa	p.S306L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_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)			ACTCTACAATCACTGGACTAT	0.453000													6	30					0	0	0.217242	0	0
CPS1	1373	broad.mit.edu	37	2	211527852	211527852	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:211527852C>A	ENST00000233072.5	+	33	4129	c.3933C>A	c.(3931-3933)ccC>ccA	p.P1311P	CPS1_ENST00000451903.2_Silent_p.P860P|CPS1_ENST00000430249.2_Silent_p.P1317P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1311					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACAGGCTCCCATGTTTTCCT	0.403000													10	81					0.0692343	0.0709148	0.361761	1	0
RERGL	79785	broad.mit.edu	37	12	18238568	18238568	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:18238568C>G	ENST00000229002.2	-	4	378	c.172G>C	c.(172-174)Gac>Cac	p.D58H	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.D57H|RERGL_ENST00000536890.1_Missense_Mutation_p.D57H	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	58	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GAACAAGGGTCATATATTTCT	0.284000													4	100					0	0	0.150653	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													10	525					2.27111e-07	2.94895e-07	0.411799	1	0
TARS2	80222	broad.mit.edu	37	1	150471495	150471495	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:150471495G>T	ENST00000369064.3	+	12	1558	c.1524G>T	c.(1522-1524)tgG>tgT	p.W508C	TARS2_ENST00000606933.1_Missense_Mutation_p.W426C|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.W378C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	508					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTTGCCTTTGGGACCAGGCCG	0.547000													17	134					1.99824e-07	2.61881e-07	0.520397	1	0
LINC01410	103352539	broad.mit.edu	37	9	66457653	66457653	+	RNA	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:66457653G>A	ENST00000424345.1	+	0	67																											CCTGTCCTCCGGACTGGAGTT	0.617000													3	15					0	0	0.150653	0	0
LINC00477	144360	broad.mit.edu	37	12	24736355	24736355	+	RNA	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:24736355C>A	ENST00000483544.1	-	0	747					NR_029451.2																						CACGTAGAACCTGAGACCACG	0.547000													8	60					5.18039e-06	6.35502e-06	0.278610	1	0
RYR2	6262	broad.mit.edu	37	1	237948033	237948033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:237948033G>T	ENST00000366574.2	+	90	13338	c.13021G>T	c.(13021-13023)Gag>Tag	p.E4341*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4347*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4325*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4341					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTCAGGATGAGGTTAGAGG	0.547000													14	132					1.05317e-09	1.52728e-09	0.457914	1	0
C20orf85	128602	broad.mit.edu	37	20	56735866	56735866	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:56735866G>T	ENST00000371168.3	+	4	463	c.402G>T	c.(400-402)caG>caT	p.Q134H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	134										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGCCCAAGCAGGGCGTGCACT	0.597000													5	29					0.014758	0.0153019	0.184627	1	0
MEGF10	84466	broad.mit.edu	37	5	126705635	126705635	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:126705635G>C	ENST00000274473.6	+	6	620	c.353G>C	c.(352-354)tGt>tCt	p.C118S	MEGF10_ENST00000503335.2_Missense_Mutation_p.C118S|MEGF10_ENST00000418761.2_Missense_Mutation_p.C118S|MEGF10_ENST00000508365.1_Missense_Mutation_p.C118S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	118	EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATGGTCGCTGTATTGCTCCA	0.473000													7	42					0	0	0.335167	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870091	36870091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr20:36870091C>A	ENST00000279024.4	-	3	713	c.442G>T	c.(442-444)Gaa>Taa	p.E148*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	148										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCAGCCATTCTTGGGTGAAA	0.512000													47	146					8.04919e-23	1.47685e-22	0.870114	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691909	31691909	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:31691909A>T	ENST00000360542.3	-	1	698	c.445T>A	c.(445-447)Ttg>Atg	p.L149M		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	149						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CTCTTGGACAAGCAGAATTGG	0.557000													60	268					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	114186138	114186138	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:114186138C>A	ENST00000297405.5	-	4	766	c.522G>T	c.(520-522)caG>caT	p.Q174H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q134H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q174H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q174H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	174						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGAGCTACTCTGCAATTCTA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	34					1.10923e-09	1.60307e-09	0.639603	1	0
PPME1	51400	broad.mit.edu	37	11	73941432	73941432	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:73941432G>A	ENST00000328257.8	+	6	864	c.541G>A	c.(541-543)Gat>Aat	p.D181N	PPME1_ENST00000398427.4_Missense_Mutation_p.D181N			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	181					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GTGCATGATTGATGTTGTAGA	0.418000													69	178					0	0	0.870114	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30380611	30380611	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:30380611C>A	ENST00000409939.3	-	1	974	c.894G>T	c.(892-894)ggG>ggT	p.G298G		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	298						cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCAGGGCCAGCCCGTTTATCT	0.612000													2	2					0.0784	0.0801085	0.115264	1	0
HMGXB3	22993	broad.mit.edu	37	5	149386189	149386189	+	Silent	SNP	A	A	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:149386189A>G	ENST00000503427.1	+	3	1152	c.291A>G	c.(289-291)ctA>ctG	p.L97L	HMGXB3_ENST00000502717.1_Silent_p.L97L			Q12766	HMGX3_HUMAN	HMG box domain containing 3	343	Arg-rich.					nucleus	DNA binding|kinase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						AAGCCAAACTAGAGAAGGAAG	0.458000													10	25					0	0	0.387290	0	0
LAMA1	284217	broad.mit.edu	37	18	6950810	6950810	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:6950810C>G	ENST00000389658.3	-	58	8461	c.8368G>C	c.(8368-8370)Gca>Cca	p.A2790P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2790	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGAGCAGTGCAGGGTGAGAG	0.547000													13	42					0	0	0.479597	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889629	23889629	+	Silent	SNP	A	A	G	rs150927765	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:23889629A>G	ENST00000532292.1	-	1	1546	c.1452T>C	c.(1450-1452)taT>taC	p.Y484Y		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGATGATAATATAGGCGTGGT	0.423000													10	26					0	0	0.361761	0	0
MYH3	4621	broad.mit.edu	37	17	10542491	10542491	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:10542491C>T	ENST00000583535.1	-	25	3205	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1040K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1040					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTTCTTGTTCTAGGGAGCTT	0.458000													17	72					0	0	0.520397	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	21					2.27111e-07	2.94895e-07	0.411799	1	0
HEPH	9843	broad.mit.edu	37	X	65427991	65427991	+	Silent	SNP	G	G	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:65427991G>T	ENST00000519389.1	+	15	2807	c.2628G>T	c.(2626-2628)ctG>ctT	p.L876L	HEPH_ENST00000374727.3_Silent_p.L825L|HEPH_ENST00000419594.1_Silent_p.L633L|HEPH_ENST00000336279.5_Silent_p.L555L|HEPH_ENST00000343002.2_Silent_p.L822L|HEPH_ENST00000441993.2_Silent_p.L825L			Q9BQS7	HEPH_HUMAN	hephaestin	822	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTGATATCCTGACTGTGGTAT	0.423000													9	28					5.4927e-09	7.77826e-09	0.307466	1	0
TRO	7216	broad.mit.edu	37	X	54956057	54956057	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:54956057C>A	ENST00000173898.7	+	12	3012	c.2900C>A	c.(2899-2901)gCt>gAt	p.A967D	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.A498D|TRO_ENST00000375041.2_Missense_Mutation_p.A570D	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	967	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCACTGGTGCTGGCTTTGGT	0.537000													17	21					2.35188e-11	3.59599e-11	0.539581	1	0
UGT1A6	54578	broad.mit.edu	37	2	234602084	234602084	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:234602084A>T	ENST00000305139.6	+	1	573	c.434A>T	c.(433-435)gAt>gTt	p.D145V	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		AGCAAGTTTGATGCTCTTTTC	0.498000													34	78					0	0	0.779181	0	0
HTR5A-AS1	100128264	broad.mit.edu	37	7	154862888	154862888	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:154862888C>A	ENST00000395731.2	-	1	379	c.126G>T	c.(124-126)atG>atT	p.M42I	AC093726.4_ENST00000543018.1_Missense_Mutation_p.M42I|AC093726.4_ENST00000493904.1_5'UTR|HTR5A_ENST00000287907.2_Silent_p.V93V																							CCGCGCTGGTCATGCCGCTGA	0.677000													9	13					7.48243e-07	9.5108e-07	0.335167	1	0
WDR87	83889	broad.mit.edu	37	19	38378446	38378446	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:38378446C>A	ENST00000447313.2	-	6	6025	c.5865G>T	c.(5863-5865)ttG>ttT	p.L1955F	WDR87_ENST00000303868.5_Missense_Mutation_p.L1916F			Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1916	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CTACTTGGACCAATTTTTTCT	0.433000													3	15					6.4e-05	7.41978e-05	0.115264	1	0
COL5A3	50509	broad.mit.edu	37	19	10077014	10077014	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:10077014G>A	ENST00000264828.3	-	64	4843	c.4758C>T	c.(4756-4758)ctC>ctT	p.L1586L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1586	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGTCGGGATAGAGGCAGGTCT	0.592000													4	14					0	0	0.150653	0	0
ACER1	125981	broad.mit.edu	37	19	6307196	6307196	+	Silent	SNP	C	C	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:6307196C>T	ENST00000301452.4	-	5	671	c.594G>A	c.(592-594)caG>caA	p.Q198Q		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	198						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AATGAATCCTCTGCCAGAAGC	0.522000													19	48					0	0	0.592651	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935421	155935421	+	Splice_Site	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:155935421C>A	ENST00000368316.1	-	9	860		c.e9+1		ARHGEF2_ENST00000368315.3_Splice_Site|ARHGEF2_ENST00000361247.4_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000313667.4_Splice_Site			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGAGGCTCACCCAGCAATGT	0.597000													5	75					0.000602214	0.000658379	0.184627	1	0
SMC3	9126	broad.mit.edu	37	10	112344147	112344147	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:112344147A>T	ENST00000361804.4	+	13	1424	c.1298A>T	c.(1297-1299)cAg>cTg	p.Q433L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	433					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AATCTGGAGCAGTATAATGTA	0.299000													11	54					0	0	0.387290	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719583	140719583	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140719583A>T	ENST00000394576.2	+	1	1045	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTTTACATGACATCTGC	0.443000													17	114					0	0	0.500413	0	0
DNAH5	1767	broad.mit.edu	37	5	13792290	13792290	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:13792290C>A	ENST00000265104.4	-	50	8365	c.8261G>T	c.(8260-8262)gGt>gTt	p.G2754V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2754	AAA 3 (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)					TTCTGAGAAACCCCTCTGAGT	0.418000									Kartagener syndrome				8	62					2.74318e-10	4.06183e-10	0.335167	1	0
MTR	4548	broad.mit.edu	37	1	237057839	237057839	+	Silent	SNP	G	G	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:237057839G>A	ENST00000366577.5	+	30	3781	c.3387G>A	c.(3385-3387)ctG>ctA	p.L1129L	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Silent_p.L1078L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1129	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCGCTGGGGGACCGGC	0.617000													19	40					0	0	0.575678	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37463238	37463238	+	Splice_Site	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:37463238G>C	ENST00000002125.4	+	3	256		c.e3-1		NDUFAF7_ENST00000483999.1_Intron|NDUFAF7_ENST00000336237.6_Intron	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		TTTTTACTCAGGGTTATTATG	0.289000													4	81					0	0	0.248553	0	0
IQGAP3	128239	broad.mit.edu	37	1	156496383	156496383	+	Silent	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:156496383C>A	ENST00000361170.2	-	38	4801	c.4791G>T	c.(4789-4791)ctG>ctT	p.L1597L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1597					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)					ACTGGAGCTGCAGGAGATCCT	0.493000													5	68					2.0095e-06	2.51634e-06	0.248553	1	0
UNC79	57578	broad.mit.edu	37	14	94067034	94067034	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:94067034G>C	ENST00000553484.1	+	25	3646	c.3492G>C	c.(3490-3492)gaG>gaC	p.E1164D	UNC79_ENST00000256339.4_Missense_Mutation_p.E987D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1164D|UNC79_ENST00000393151.2_Missense_Mutation_p.E1164D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1164						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAGCTGGGAGTTCTTTGTCA	0.388000													3	59					0	0	0.150653	0	0
SEC31A	22872	broad.mit.edu	37	4	83784523	83784523	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:83784523C>A	ENST00000432794.1	-	12	1620	c.1457G>T	c.(1456-1458)cGt>cTt	p.R486L	SEC31A_ENST00000395310.2_Missense_Mutation_p.R486L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R486L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R486L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R486L|SEC31A_ENST00000311785.7_Missense_Mutation_p.R486L|SEC31A_ENST00000264405.5_Missense_Mutation_p.R258L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R486L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R486L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R486L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R486L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R481L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R486L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R486L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.R486L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R486L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	486					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTATTTTCCACGAGAATCATC	0.308000													4	26					0.000602214	0.000658379	0.184627	1	0
FBN3	84467	broad.mit.edu	37	19	8137954	8137954	+	Missense_Mutation	SNP	C	C	A	rs140397273		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:8137954C>A	ENST00000600128.1	-	62	8344	c.7930G>T	c.(7930-7932)Ggg>Tgg	p.G2644W	FBN3_ENST00000601739.1_Missense_Mutation_p.G2644W|FBN3_ENST00000270509.2_Missense_Mutation_p.G2644W			Q75N90	FBN3_HUMAN	fibrillin 3	2644	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCCTTGCCCAGCCCGGAAG	0.637000													27	47					9.65021e-13	1.52524e-12	0.750413	1	0
OR1S1	219959	broad.mit.edu	37	11	57982975	57982975	+	Silent	SNP	T	T	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:57982975T>C	ENST00000309433.6	+	1	759	c.759T>C	c.(757-759)acT>acC	p.T253T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCTTCTCCACTTGTGGCTCTC	0.473000													6	36					0	0	0.217242	0	0
ESPNP	284729	broad.mit.edu	37	1	17030903	17030905	+	RNA	DEL	GAG	GAG	-	rs67156338		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:17030903_17030905delGAG	ENST00000492551.1	-	0	696					NR_026567.1																						AGAGATCGACGAGGAGGGGGCCT	0.640													4	4	---	---	---	---					
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	RNA	DEL	AG	AG	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.500													2	4	---	---	---	---					
FAAHP1	729041	broad.mit.edu	37	1	46902925	46902926	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:46902925_46902926insA	ENST00000429784.2	+	0	104					NR_045483.1																						CATGGATTCCCCCCTTTGTGAG	0.574													2	4	---	---	---	---					
RP11-466L17.1	0	broad.mit.edu	37	1	56132572	56132579	+	RNA	DEL	TATACATC	TATACATC	-	rs72060177		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:56132572_56132579delTATACATC	ENST00000422374.1	+	0	240																											acatgtatagtatacatctatacatcta	0.240													2	4	---	---	---	---					
GNG12-AS1	100289178	broad.mit.edu	37	1	68319595	68319595	+	RNA	DEL	G	G	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:68319595delG	ENST00000420587.1	+	0	134				GNG12-AS1_ENST00000413628.1_RNA	NR_040077.1		Q6ZVV5	Q6ZVV5_HUMAN																			GAGCCCTCCTGGTGAGAGCTG	0.577													2	4	---	---	---	---					
LOC101927587	101927587	broad.mit.edu	37	1	84094631	84094632	+	RNA	INS	-	-	A	rs66533353	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:84094631_84094632insA	ENST00000417975.1	-	0	280																											GCTTGTTAGTTAAAAAAAAATA	0.411													3	5	---	---	---	---					
RP4-651E10.4	0	broad.mit.edu	37	1	87082251	87082251	+	RNA	DEL	A	A	-	rs71808850		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:87082251delA	ENST00000456587.1	-	0	294																											aactaactttaaaaaaaaaaa	0.378													2	4	---	---	---	---					
ABCA4	24	broad.mit.edu	37	1	94495002	94495003	+	Splice_Site	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:94495002_94495003insG	ENST00000370225.3	-	30	4623_4624	c.4539_splice	c.e30+1	p.E1513_splice		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1513			Q -> R (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCAGGTACCTGGGGGGGCGGG	0.624													3	6	---	---	---	---					
AL592494.5	0	broad.mit.edu	37	1	121160438	121160438	+	RNA	DEL	A	A	-	rs113685449		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:121160438delA	ENST00000417218.1	+	0	551				RP11-343N15.2_ENST00000445260.2_lincRNA																							ggagagggagagggggagggg	0.522													2	4	---	---	---	---					
LOC400794	400794	broad.mit.edu	37	1	165487607	165487607	+	RNA	DEL	G	G	-	rs139668843	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:165487607delG	ENST00000438275.1	-	0	1146				RP11-280O1.2_ENST00000415000.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000452283.1_RNA																							ttttttttttgttttgttttt	0.502													6	0	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	173009000	173009000	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:173009000delT	ENST00000432694.1	+	0	656																											TCAGCAGATGTTTTTTTAAAA	0.348													2	4	---	---	---	---					
RP1-272L16.1	0	broad.mit.edu	37	1	209708265	209708266	+	RNA	INS	-	-	T	rs111400425		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:209708265_209708266insT	ENST00000424696.2	-	0	510																											CTCATTCATAGTTTTTTTTTTT	0.337													4	7	---	---	---	---					
CTD-2090I13.1	0	broad.mit.edu	37	1	227598227	227598228	+	RNA	INS	-	-	TTTTCT			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:227598227_227598228insTTTTCT	ENST00000445817.1	+	0	340																											ctcttttcttcttttctttttc	0.396													6	6	---	---	---	---					
OR2G2	81470	broad.mit.edu	37	1	247752266	247752266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:247752266delT	ENST00000320065.1	+	1	605	c.605delT	c.(604-606)ctfs	p.L202fs	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGGCTGAGCTTTTTGTGGCT	0.517													18	122	---	---	---	---					
OR2L8	391190	broad.mit.edu	37	1	248112211	248112211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr1:248112211delC	ENST00000357191.3	+	1	52	c.52delC	c.(52-54)cafs	p.P19fs	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGGGCTGTTTCCACCATCAAG	0.378													32	176	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12217963	12217963	+	RNA	DEL	T	T	-	rs150061168		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:12217963delT	ENST00000412294.1	+	0	197																											ACCCTGGCTATTTTTTTTTTT	0.408													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12300712	12300712	+	RNA	DEL	T	T	-	rs5829348		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:12300712delT	ENST00000412294.1	+	0	197																											gttgttattcttttttttttt	0.363													3	6	---	---	---	---					
SLC8A1-AS1	100128590	broad.mit.edu	37	2	40300491	40300491	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:40300491delT	ENST00000599268.1	+	0	509				SLC8A1-AS1_ENST00000418854.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000439606.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA																							ggtagaatggttttttttttt	0.368													5	3	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48223666	48223667	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:48223666_48223667insA	ENST00000447571.1	-	0	441																		p.0?(2)									ACCTGTGTCTGAAAAAAAATGG	0.406													3	3	---	---	---	---					
AC010967.2	0	broad.mit.edu	37	2	53116353	53116353	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:53116353delA	ENST00000421575.1	-	0	119																											ACTGCAAAAGAAAAAAAACCC	0.323													2	4	---	---	---	---					
SLC9B1P2	389000	broad.mit.edu	37	2	92095670	92095670	+	RNA	DEL	G	G	-	rs112963197		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:92095670delG	ENST00000606405.1	-	0	167																											Aagaacaatagggaatcctcc	0.323													3	6	---	---	---	---					
LOC100131270	100131270	broad.mit.edu	37	2	159587151	159587152	+	RNA	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:159587151_159587152insG	ENST00000342892.4	-	0	275				AC005042.4_ENST00000442666.1_RNA|AC005042.5_ENST00000449526.1_lincRNA																							GGGTTGCCCCTGGGGGGCCAAG	0.569													2	4	---	---	---	---					
AC074363.1	0	broad.mit.edu	37	2	168260811	168260812	+	RNA	INS	-	-	C	rs6754396	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:168260811_168260812insC	ENST00000442316.1	+	0	164																											cccaaacaccacccccccatta	0.460													3	5	---	---	---	---					
AC007319.1	0	broad.mit.edu	37	2	188093673	188093674	+	RNA	DEL	TT	TT	-	rs146904630		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:188093673_188093674delTT	ENST00000412276.1	+	0	189				AC007319.1_ENST00000453517.1_RNA																							CACTATAAACTTTTTTTTTTTT	0.366													2	4	---	---	---	---					
AC007563.3	0	broad.mit.edu	37	2	217669179	217669181	+	RNA	DEL	AGG	AGG	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:217669179_217669181delAGG	ENST00000434973.1	+	0	78				AC007563.5_ENST00000447289.1_RNA																							gagagaaggaaggaaggagagaa	0.488													3	6	---	---	---	---					
AC097468.7	0	broad.mit.edu	37	2	219820075	219820075	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr2:219820075delA	ENST00000429343.1	-	0	45																											TGAAGGCAGGAGCCAGGGAGT	0.542													2	4	---	---	---	---					
AC026188.1	0	broad.mit.edu	37	3	3448495	3448495	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:3448495delT	ENST00000455703.1	-	0	59																											aagatagttgttttttttttt	0.348													2	4	---	---	---	---					
SATB1-AS1	101927777	broad.mit.edu	37	3	18931172	18931173	+	RNA	DEL	GT	GT	-	rs71902334		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:18931172_18931173delGT	ENST00000425799.2	+	0	463																											gtgtgtgtgcgtgtgtgtgtgt	0.411													3	3	---	---	---	---					
LINC00698	285401	broad.mit.edu	37	3	62992756	62992757	+	RNA	INS	-	-	C	rs12636217		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:62992756_62992757insC	ENST00000468072.1	+	0	125					NR_027104.1																						tttttctttttttttttttttt	0.421													4	3	---	---	---	---					
PRICKLE2-AS1	100652759	broad.mit.edu	37	3	64054848	64054849	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:64054848_64054849insT	ENST00000482609.1	+	0	198					NR_045697.1																						ggtcttctctcttttttctcgg	0.317													2	4	---	---	---	---					
RP11-343D2.11	0	broad.mit.edu	37	3	97860648	97860649	+	RNA	INS	-	-	AC	rs138652055	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:97860648_97860649insAC	ENST00000508964.1	-	0	94																											ATGGGAAAAATacacacacaca	0.381													2	4	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106650723	106650725	+	RNA	DEL	TCA	TCA	-	rs35138153		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:106650723_106650725delTCA	ENST00000484698.1	-	0	337																											TTGATGACTCTCATATTTGAGAG	0.305													3	3	---	---	---	---					
RP11-457K10.1	0	broad.mit.edu	37	3	109453565	109453565	+	RNA	DEL	A	A	-	rs67923770		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:109453565delA	ENST00000485384.1	+	0	29																											CTAGTCAGGCAAAAAAAAAAA	0.418													2	4	---	---	---	---					
LOC101927123	101927123	broad.mit.edu	37	3	127070592	127070593	+	RNA	DEL	AC	AC	-	rs71920649		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:127070592_127070593delAC	ENST00000488425.1	-	0	309																											AGCTCCACCAacacacacacac	0.470													3	4	---	---	---	---					
NCK1-AS1	101927597	broad.mit.edu	37	3	136575577	136575577	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:136575577delT	ENST00000461864.1	-	0	291				RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA																							gcaaactacatttttttctat	0.418													2	4	---	---	---	---					
RP11-550I24.2	0	broad.mit.edu	37	3	156899472	156899473	+	RNA	DEL	TT	TT	-	rs111945933		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr3:156899472_156899473delTT	ENST00000488040.1	+	0	43				RP11-550I24.2_ENST00000487238.1_RNA																							gtgtcactgatttttttttttt	0.401													2	4	---	---	---	---					
RP11-3J1.1	0	broad.mit.edu	37	4	19344179	19344179	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:19344179delC	ENST00000505347.1	-	0	349																											TTAGCTACTTCTCCACATTCT	0.433													5	2	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22710757	22710758	+	RNA	INS	-	-	ATC	rs112579318	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:22710757_22710758insATC	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ccaccaccgttatcatcatcat	0.391													3	4	---	---	---	---					
RP11-123O22.1	0	broad.mit.edu	37	4	28576640	28576645	+	RNA	DEL	CCCCCA	CCCCCA	-	rs112377097	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:28576640_28576645delCCCCCA	ENST00000509416.1	+	0	402																											CACACCCCCCCCCCCACACACACACA	0.422													5	3	---	---	---	---					
RP11-431M7.2	0	broad.mit.edu	37	4	36351620	36351620	+	RNA	DEL	T	T	-	rs79959414		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:36351620delT	ENST00000504344.1	-	0	330																											aacattcctgtttgccaagga	0.418													5	2	---	---	---	---					
IGFBP7-AS1	255130	broad.mit.edu	37	4	57998157	57998158	+	RNA	DEL	AC	AC	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:57998157_57998158delAC	ENST00000499667.2	+	0	209				RP11-12A1.1_ENST00000508328.1_RNA	NR_034081.1																						TAACATCTCTacacacacacac	0.455													2	4	---	---	---	---					
LOC401134	401134	broad.mit.edu	37	4	65834286	65834287	+	RNA	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:65834286_65834287insG	ENST00000509932.1	-	0	239					NR_033976.1																						tttacatggctggggggactca	0.450													2	4	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68893787	68893788	+	RNA	INS	-	-	CA	rs138239780	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:68893787_68893788insCA	ENST00000500538.2	+	0	1905																											GTGTGTGCGTGCACACACACAC	0.351													4	2	---	---	---	---					
RASGEF1B	153020	broad.mit.edu	37	4	82649346	82649346	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:82649346delT	ENST00000510780.1	-	0	390																											aacccaggagtttgaaaccag	0.433													2	4	---	---	---	---					
RP11-767N15.1	0	broad.mit.edu	37	4	84597836	84597837	+	RNA	DEL	TG	TG	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:84597836_84597837delTG	ENST00000510169.1	-	0	218																											TGTTTGTGTTTGTGTGTGTGTG	0.406													2	4	---	---	---	---					
RP11-521E5.1	0	broad.mit.edu	37	4	131302761	131302762	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:131302761_131302762insT	ENST00000508942.1	+	0	331																											gactggctgcatttttcccctg	0.436													2	4	---	---	---	---					
LINC00616	641365	broad.mit.edu	37	4	138978499	138978500	+	RNA	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:138978499_138978500insC	ENST00000514600.1	-	0	870					NR_037866.1																						gagggcagtttcccccgttctg	0.460													2	4	---	---	---	---					
RP11-138A23.2	0	broad.mit.edu	37	4	160321002	160321003	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:160321002_160321003insT	ENST00000502846.1	+	0	96																											GAAGGATTTTGTTTTTAATTTA	0.376													2	4	---	---	---	---					
RP11-130F10.1	0	broad.mit.edu	37	4	178486117	178486118	+	RNA	DEL	CA	CA	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr4:178486117_178486118delCA	ENST00000507023.1	+	0	581																											cacacacacgcacacacacaca	0.401													2	4	---	---	---	---					
LINC01020	340094	broad.mit.edu	37	5	5067856	5067856	+	RNA	DEL	A	A	-	rs72150846		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:5067856delA	ENST00000508201.1	+	0	944																											TATTTTTGTTAAAAAAAAAAA	0.378													2	4	---	---	---	---					
CTD-2194L12.2	0	broad.mit.edu	37	5	37918598	37918599	+	RNA	DEL	AC	AC	-	rs71850663		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:37918598_37918599delAC	ENST00000513673.1	-	0	234																											acttaaaatTacacacacacac	0.421													3	5	---	---	---	---					
LIFR-AS1	100506495	broad.mit.edu	37	5	38643496	38643496	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:38643496delC	ENST00000500817.2	+	0	597																											aaaagactctcagcaaagtga	0.498													6	1	---	---	---	---					
RP11-155G15.2	0	broad.mit.edu	37	5	96524241	96524242	+	RNA	DEL	TG	TG	-	rs147268833		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:96524241_96524242delTG	ENST00000504578.1	+	0	71				CTD-2215E18.2_ENST00000506562.1_RNA																							tgtgtatgtatgtgtgtgtgtg	0.416													3	4	---	---	---	---					
RP11-155G15.2	0	broad.mit.edu	37	5	96707012	96707013	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:96707012_96707013insT	ENST00000504578.1	+	0	71																											TAATTTCCCCCTTTTTCTTCAC	0.356													2	4	---	---	---	---					
AC008834.1	0	broad.mit.edu	37	5	97461964	97461964	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:97461964delA	ENST00000505908.1	-	0	454																											caaatctgacaaaaacaagaa	0.353													5	1	---	---	---	---					
CTC-575N7.1	0	broad.mit.edu	37	5	129149515	129149515	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:129149515delT	ENST00000503616.1	-	0	121				CTC-575N7.1_ENST00000515569.1_RNA																							gaggcacaaatttgtacaatg	0.468													2	4	---	---	---	---					
RP11-381K20.2	0	broad.mit.edu	37	5	137181247	137181248	+	RNA	INS	-	-	AGA	rs10680705	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:137181247_137181248insAGA	ENST00000514616.1	-	0	562																											actatcctgtgagctcaagcca	0.465													2	4	---	---	---	---					
PCDHGA10	56106	broad.mit.edu	37	5	140792989	140792990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:140792989_140792990insT	ENST00000398610.2	+	1	247_248	c.247_248insT	c.(247-249)gcgfs	p.A83fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.P83L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTGAACCCGCGCAGCGGC	0.629													7	52	---	---	---	---					
LOC102546299	102546299	broad.mit.edu	37	5	164076562	164076563	+	RNA	INS	-	-	G	rs140909283	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:164076562_164076563insG	ENST00000517508.1	+	0	716				CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA																							tctcacttaatgatcacactga	0.406													5	2	---	---	---	---					
LOC102546299	102546299	broad.mit.edu	37	5	164475272	164475273	+	RNA	INS	-	-	T	rs10060024		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:164475272_164475273insT	ENST00000519570.1	+	0	451				CTC-340A15.2_ENST00000519267.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA																							cttttcttttcttttttttttt	0.327													3	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	164778677	164778678	+	RNA	INS	-	-	A	rs146845366	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr5:164778677_164778678insA	ENST00000522189.1	+	0	21																											ACTTGTACTTCAAAAAAAAAAC	0.366													2	4	---	---	---	---					
PNPLA1	285848	broad.mit.edu	37	6	36262160	36262161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:36262160_36262161insC	ENST00000394571.2	+	4	698_699	c.698_699insC	c.(697-699)tccfs	p.S233fs	PNPLA1_ENST00000312917.5_Frame_Shift_Ins_p.S147fs|PNPLA1_ENST00000388715.3_Frame_Shift_Ins_p.S138fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	233					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACGCATTGTTCCCCCCGGACC	0.619													7	110	---	---	---	---					
TDRG1	732253	broad.mit.edu	37	6	40337411	40337411	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:40337411delA	ENST00000451810.1	+	0	313				TDRG1_ENST00000448559.1_RNA																							ggacacagccaaatcatatca	0.413													2	4	---	---	---	---					
TFEB	7942	broad.mit.edu	37	6	41652374	41652375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr6:41652374_41652375insG	ENST00000230323.4	-	10	1694_1695	c.1393_1394insC	c.(1393-1395)gagfs	p.E465fs	TFEB_ENST00000403298.4_Frame_Shift_Ins_p.E465fs|TFEB_ENST00000373033.1_Frame_Shift_Ins_p.E465fs|TFEB_ENST00000358871.2_Frame_Shift_Ins_p.E479fs|TFEB_ENST00000420312.1_Frame_Shift_Ins_p.E380fs	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	465				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GAAGCTGCTCCGGCGGCTGCTG	0.683			T	ALPHA	renal (childhood epithelioid)								10	33	---	---	---	---					
LOC101927630	101927630	broad.mit.edu	37	7	17582592	17582601	+	RNA	DEL	ACACACACAT	ACACACACAT	-	rs61597599		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:17582592_17582601delACACACACAT	ENST00000451792.1	-	0	158																											acacacacacacacacacaTATATATATTT	0.433													3	6	---	---	---	---					
JAZF1-AS1	100128081	broad.mit.edu	37	7	28266519	28266520	+	RNA	DEL	TT	TT	-	rs66623976		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:28266519_28266520delTT	ENST00000455963.1	+	0	301				JAZF1-AS1_ENST00000436758.1_RNA																							gtgtgtgtgGtttttttttttt	0.441													3	5	---	---	---	---					
AC083864.3	0	broad.mit.edu	37	7	36083169	36083173	+	RNA	DEL	AAAAC	AAAAC	-	rs72140957		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:36083169_36083173delAAAAC	ENST00000446024.1	+	0	459																											caaaaaacaaaaaacaaaacaaaac	0.346													3	3	---	---	---	---					
LINC01448	101928795	broad.mit.edu	37	7	42715959	42715959	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:42715959delC	ENST00000455947.1	-	0	217																											GGTGCATGTGCCACCTCTCTA	0.463													2	4	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57703453	57703454	+	RNA	INS	-	-	T	rs147560641	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:57703453_57703454insT	ENST00000605139.1	-	0	325_326																											aggctgaataatttgctcaTCC	0.485													2	4	---	---	---	---					
NMD3P1	441238	broad.mit.edu	37	7	63370613	63370613	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:63370613delA	ENST00000450544.1	+	0	343																											CCTGGATTCTAAAGCACACCG	0.443													11	30	---	---	---	---					
U66061.31	0	broad.mit.edu	37	7	142422054	142422055	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:142422054_142422055insT	ENST00000506718.1	+	0	401																											ctataccttaatTTTAAAAATT	0.342													2	4	---	---	---	---					
OR2A1-AS1	101928492	broad.mit.edu	37	7	144029091	144029092	+	RNA	INS	-	-	TG	rs71281428		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:144029091_144029092insTG	ENST00000463561.1	-	0	411				RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA																							gtgtgtttgtttgtgtgtgtgt	0.520													5	4	---	---	---	---					
C7orf13	129790	broad.mit.edu	37	7	156385466	156385467	+	RNA	INS	-	-	CT	rs139533210	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr7:156385466_156385467insCT	ENST00000447933.1	-	0	300				RP5-982E9.1_ENST00000414767.1_lincRNA																							tctctctgtccctctctctctc	0.515													2	4	---	---	---	---					
RP11-521M14.1	0	broad.mit.edu	37	8	27049439	27049443	+	RNA	DEL	TATCA	TATCA	-	rs112152880		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:27049439_27049443delTATCA	ENST00000521408.1	+	0	67																											TTCCCCGGAGTATCATATCAGTCCC	0.395													3	3	---	---	---	---					
RP1-84O15.2	0	broad.mit.edu	37	8	34100972	34100973	+	RNA	DEL	GT	GT	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:34100972_34100973delGT	ENST00000522460.1	+	0	202				RP11-431M3.2_ENST00000518178.1_lincRNA																							tcttttatgcgtgtgtgtgtgt	0.366													2	4	---	---	---	---					
LINC01288	103689844	broad.mit.edu	37	8	34641928	34641929	+	RNA	INS	-	-	TTG	rs71211712		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:34641928_34641929insTTG	ENST00000519189.1	+	0	45																											AACTAttttttttgttgttgtt	0.490													5	2	---	---	---	---					
LOC102724623	102724623	broad.mit.edu	37	8	65226444	65226444	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:65226444delA	ENST00000521958.1	-	0	218				RP11-32K4.1_ENST00000523191.1_RNA																							tcagtaactgaaaaaaaaaAA	0.328													3	2	---	---	---	---					
RP11-120I21.2	0	broad.mit.edu	37	8	85047250	85047251	+	RNA	DEL	GT	GT	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:85047250_85047251delGT	ENST00000523678.1	+	0	279																											GCCtgtgtacgtgtgtgtgtgt	0.426													3	5	---	---	---	---					
KB-1460A1.1	0	broad.mit.edu	37	8	102136766	102136767	+	RNA	DEL	AC	AC	-	rs34244813		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:102136766_102136767delAC	ENST00000524369.1	-	0	360																											aacaaacaaaacacacacacac	0.446													5	8	---	---	---	---					
RP11-1084E5.1	0	broad.mit.edu	37	8	110063795	110063795	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:110063795delC	ENST00000522244.1	-	0	129																											gcccagCACACCACAGTTAAT	0.323													2	4	---	---	---	---					
LINC00536	100859921	broad.mit.edu	37	8	117231497	117231497	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:117231497delT	ENST00000505156.2	-	0	1333					NR_046215.1																						CATCTCTTCATTTTTTTTTCT	0.333													2	4	---	---	---	---					
LINC01151	104266958	broad.mit.edu	37	8	123699855	123699855	+	RNA	DEL	A	A	-	rs34200618		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:123699855delA	ENST00000521608.1	-	0	335																											actccatctcaaaaaaaaaaa	0.448													6	2	---	---	---	---					
RP11-149P24.1	0	broad.mit.edu	37	8	137061003	137061004	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:137061003_137061004insT	ENST00000523150.1	+	0	159																											cctttctttccttttttttctt	0.366													2	4	---	---	---	---					
RP11-149P24.1	0	broad.mit.edu	37	8	137107515	137107516	+	RNA	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:137107515_137107516insG	ENST00000523150.1	+	0	330																											GAGAGGAAAATGGGGGGCATAC	0.495													3	6	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142517131	142517131	+	RNA	DEL	G	G	-	rs66486012		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr8:142517131delG	ENST00000430863.1	-	0	161					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GAGTACCGGTGGGGGGGGGTC	0.667													3	5	---	---	---	---					
RP11-408N14.1	0	broad.mit.edu	37	9	22211940	22211941	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:22211940_22211941insT	ENST00000435092.1	-	0	373																											TATGTTTAGCCTTTTTTTTTTT	0.371													2	4	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68401887	68401887	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:68401887delT	ENST00000417843.2	-	0	224																											cataagcgggtgctaaaagat	0.428													7	17	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68409070	68409070	+	RNA	DEL	T	T	-	rs62545660	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:68409070delT	ENST00000417843.2	-	0	67																											CCCTCTTTCCTCCTTTTGTCT	0.617													3	4	---	---	---	---					
LOC101927502	101927502	broad.mit.edu	37	9	84390766	84390767	+	RNA	DEL	TC	TC	-	rs35786463	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:84390766_84390767delTC	ENST00000437181.1	+	0	486																											ccctcctccttccctacttctt	0.450													2	4	---	---	---	---					
LOC440173	440173	broad.mit.edu	37	9	89655449	89655450	+	RNA	INS	-	-	AC	rs57957635	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:89655449_89655450insAC	ENST00000602579.1	-	0	256					NR_027471.1																						tgtcttcacatacacacacaca	0.470													5	2	---	---	---	---					
LOC101928797	101928797	broad.mit.edu	37	9	120414048	120414048	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr9:120414048delC	ENST00000450938.1	+	0	216																											TCTAAGGAAACCCTCCTGGGT	0.463													2	4	---	---	---	---					
RP11-69C17.4	0	broad.mit.edu	37	10	2218609	2218610	+	RNA	INS	-	-	A	rs78764746	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:2218609_2218610insA	ENST00000418524.2	-	0	305_306																											TGGTACCTTCTAAAAATGCTGC	0.327													5	4	---	---	---	---					
RP11-799O21.2	0	broad.mit.edu	37	10	6961518	6961518	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:6961518delC	ENST00000457632.1	-	0	44																											tcacttgaggccaggagtttg	0.483													2	4	---	---	---	---					
FRMPD2	143162	broad.mit.edu	37	10	49371393	49371393	+	Frame_Shift_Del	DEL	A	A	-	rs151138817	byFrequency	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:49371393delA	ENST00000374201.3	-	28	4161	c.3859delT	c.(3859-3861)gtfs	p.C1287fs	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.C1262fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.C1255fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.C239fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1287					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGATATCACAAACTGAATAG	0.398													59	334	---	---	---	---					
OLMALINC	90271	broad.mit.edu	37	10	102136590	102136593	+	RNA	DEL	GGTA	GGTA	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:102136590_102136593delGGTA	ENST00000454935.1	+	0	398																											ccctgggcctggtagttaaagatc	0.436													5	5	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cctcccfs	p.P876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAGCTGGGAAGGGGGGCGCAG	0.609													8	257	---	---	---	---					
EPS8L2	64787	broad.mit.edu	37	11	723304	723305	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:723304_723305insC	ENST00000533256.1	+	16	1780_1781	c.1405_1406insC	c.(1405-1407)cccfs	p.P469fs	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Frame_Shift_Ins_p.P485fs|EPS8L2_ENST00000530636.1_Frame_Shift_Ins_p.P469fs|EPS8L2_ENST00000318562.8_Frame_Shift_Ins_p.P469fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	469						cytoplasm		p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGGG	0.584											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8	---	---	---	---					
RP11-613D13.4	0	broad.mit.edu	37	11	43978906	43978907	+	RNA	INS	-	-	TGAT	rs140913151	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:43978906_43978907insTGAT	ENST00000526408.1	+	0	153																											caaagatttcctgattggtaat	0.436													3	4	---	---	---	---					
RP11-727A23.10	0	broad.mit.edu	37	11	83120959	83120960	+	RNA	INS	-	-	T	rs11430732		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:83120959_83120960insT	ENST00000530045.1	+	0	537																											CTCTTTCTTTCttttttttttt	0.416													2	4	---	---	---	---					
DISC1FP1	101929222	broad.mit.edu	37	11	90419012	90419013	+	RNA	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:90419012_90419013insC	ENST00000562678.1	+	0	185																											atgctatccctccccccaaccc	0.455													3	4	---	---	---	---					
RP11-563P16.1	0	broad.mit.edu	37	11	103646394	103646401	+	RNA	DEL	ACACACAC	ACACACAC	-	rs59146183		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:103646394_103646401delACACACAC	ENST00000533459.1	-	0	127																											AACAGACAAAacacacacacacacacac	0.375													3	5	---	---	---	---					
RP11-25I9.2	0	broad.mit.edu	37	11	108905156	108905157	+	RNA	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr11:108905156_108905157insC	ENST00000526041.1	-	0	225																											GCATCTAGAATCCCCCCACATG	0.450													2	4	---	---	---	---					
LOC100506393	100506393	broad.mit.edu	37	12	20249256	20249257	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:20249256_20249257insA	ENST00000536666.1	+	0	314					NR_040098.1																						aaaagggagttaaaaataattg	0.401													2	4	---	---	---	---					
RP11-114G22.1	0	broad.mit.edu	37	12	23231305	23231305	+	RNA	DEL	C	C	-	rs79431096	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:23231305delC	ENST00000540895.1	+	0	1185																											atctctggaacctgagaggcg	0.473													2	4	---	---	---	---					
RP11-956E11.1	0	broad.mit.edu	37	12	69847585	69847586	+	RNA	INS	-	-	A	rs55918944		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:69847585_69847586insA	ENST00000549261.1	+	0	219																											ttacagcctccaaaaaaaaaaa	0.421													3	6	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	73760150	73760150	+	RNA	DEL	A	A	-	rs79069513		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:73760150delA	ENST00000549058.1	-	0	132																											atgttgagttaaaaaaaaaaa	0.284													2	4	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	73788041	73788042	+	RNA	DEL	GT	GT	-	rs149706591		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:73788041_73788042delGT	ENST00000549058.1	-	0	132																											GAgtgcatgcgtgtgtgtgtgt	0.342													2	4	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76332281	76332282	+	RNA	DEL	AC	AC	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr12:76332281_76332282delAC	ENST00000552856.1	-	0	295																											GTGTacacatacacacacacac	0.396													2	4	---	---	---	---					
LINC00423	100874167	broad.mit.edu	37	13	33466324	33466325	+	RNA	DEL	AC	AC	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:33466324_33466325delAC	ENST00000421002.1	-	0	836					NR_047020.1																						acaaacacagacacacacacac	0.416													3	6	---	---	---	---					
TPTE2P5	100616668	broad.mit.edu	37	13	41417339	41417339	+	RNA	DEL	A	A	-	rs77860933		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:41417339delA	ENST00000432905.1	-	0	331																											ccttcttgataaaaaaaacac	0.363													9	4	---	---	---	---					
SMIM2-AS1	101929212	broad.mit.edu	37	13	44801527	44801528	+	RNA	INS	-	-	T	rs148186134		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:44801527_44801528insT	ENST00000437867.1	+	0	219																											TAGTTTCTAGGTTTTTTTTTTT	0.347													4	3	---	---	---	---					
LINC00559	100874187	broad.mit.edu	37	13	90753129	90753130	+	RNA	INS	-	-	CTC	rs76146352	by1000genomes	TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr13:90753129_90753130insCTC	ENST00000569476.1	-	0	3282					NR_047489.1																						TGCTGTTACATCTTGTCTATTT	0.312													4	4	---	---	---	---					
RP11-244H18.3	0	broad.mit.edu	37	14	20108316	20108316	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:20108316delT	ENST00000551144.1	+	0	612				RP11-597A11.1_ENST00000548261.1_RNA																							GAATTTAAGATTAAGGGGAAA	0.338													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20139609	20139609	+	RNA	DEL	T	T	-	rs111722997		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:20139609delT	ENST00000548261.1	+	0	391																											TTTATTTGGGttttttttttt	0.438													3	3	---	---	---	---					
RP11-596D21.1	0	broad.mit.edu	37	14	31760072	31760072	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:31760072delA	ENST00000551799.1	+	0	400																											AAACTAAATGAAACAGCTAAA	0.318													2	4	---	---	---	---					
AL162759.1	0	broad.mit.edu	37	14	54260775	54260775	+	RNA	DEL	A	A	-	rs75747987		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:54260775delA	ENST00000418927.1	-	0	437																											CTCATGATTTAAAAAAAAAAA	0.318													2	4	---	---	---	---					
RP11-516J2.1	0	broad.mit.edu	37	14	76761724	76761725	+	RNA	INS	-	-	G	rs77132610		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:76761724_76761725insG	ENST00000555465.1	-	0	309																											GTCTTATTTCTGGGGGAAAAAA	0.455													3	3	---	---	---	---					
RP11-666E17.1	0	broad.mit.edu	37	14	82360676	82360676	+	RNA	DEL	A	A	-	rs76426351		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr14:82360676delA	ENST00000554814.1	+	0	315																											aaacctattgaaaaaaaaaaa	0.358													2	4	---	---	---	---					
RP11-184D12.1	0	broad.mit.edu	37	15	36453543	36453544	+	RNA	INS	-	-	AGG			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:36453543_36453544insAGG	ENST00000561394.1	-	0	136																											agaaggaaagaaaagaaagaaa	0.337													2	4	---	---	---	---					
RP11-624L4.1	0	broad.mit.edu	37	15	39425259	39425260	+	RNA	DEL	CT	CT	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr15:39425259_39425260delCT	ENST00000561058.1	-	0	44				RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA																							TCTTCACCACctctctctctct	0.436													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5574545	5574546	+	RNA	INS	-	-	T	rs112510879		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:5574545_5574546insT	ENST00000569895.1	+	0	343																											gtagtagttGCttttttttttt	0.450													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5612504	5612504	+	RNA	DEL	G	G	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:5612504delG	ENST00000569895.1	+	0	343																											AGGAGAAGAAGGGGGAGGACC	0.552													7	17	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5777672	5777673	+	RNA	INS	-	-	T			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:5777672_5777673insT	ENST00000569895.1	+	0	403																											gttctactctgtttttgttgtt	0.411													2	4	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5890528	5890529	+	RNA	INS	-	-	C			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:5890528_5890529insC	ENST00000569895.1	+	0	403																											GGAACACAGCTCCCCCACTGCC	0.515													2	4	---	---	---	---					
LOC101927009	101927009	broad.mit.edu	37	16	9473943	9473943	+	RNA	DEL	G	G	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:9473943delG	ENST00000564305.1	+	0	193																											agtagagagagggttttgcca	0.532													2	4	---	---	---	---					
RP11-418I22.2	0	broad.mit.edu	37	16	9611021	9611021	+	RNA	DEL	T	T	-	rs137920685		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:9611021delT	ENST00000570038.1	+	0	620																											ATTGCATTTCTTTTTTTTTTT	0.338													2	4	---	---	---	---					
CTA-481E9.3	0	broad.mit.edu	37	16	18212618	18212619	+	RNA	DEL	AC	AC	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:18212618_18212619delAC	ENST00000563866.1	-	0	48				CTA-481E9.4_ENST00000567304.1_lincRNA																							CAGTAACAAAacacacacacac	0.421													4	3	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29438362	29438363	+	RNA	DEL	AT	AT	-	rs151067447		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:29438362_29438363delAT	ENST00000398878.3	+	0	5991																											TTCATATATCATATGACTTCTA	0.322													3	5	---	---	---	---					
CTD-2336H13.2	0	broad.mit.edu	37	16	76953071	76953072	+	RNA	DEL	GT	GT	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:76953071_76953072delGT	ENST00000567777.1	+	0	192																											gtgtgtgagagtgtgtgtgtgt	0.421													2	4	---	---	---	---					
LINC01229	101928248	broad.mit.edu	37	16	79820292	79820293	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr16:79820292_79820293insA	ENST00000561510.1	+	0	361																											GTATTAGTTCCAAGGCTATTAA	0.441													3	3	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													8	229	---	---	---	---					
LINC00469	283982	broad.mit.edu	37	17	71767590	71767590	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr17:71767590delT	ENST00000321800.7	-	0	211																											tttcaatccatttatcaaaaa	0.418													2	4	---	---	---	---					
RP11-92G19.2	0	broad.mit.edu	37	18	5082798	5082798	+	RNA	DEL	A	A	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:5082798delA	ENST00000583985.1	+	0	59																											agaccttgctaataaaacagg	0.423													2	4	---	---	---	---					
LOC101927273	101927273	broad.mit.edu	37	18	53569342	53569342	+	RNA	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:53569342delC	ENST00000563553.1	-	0	38				CTD-2008L17.1_ENST00000589440.1_lincRNA																							TTCTAGGTTACCAGTACAAAT	0.368													2	4	---	---	---	---					
RP11-27G24.1	0	broad.mit.edu	37	18	57050967	57050967	+	RNA	DEL	T	T	-	rs71978246		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr18:57050967delT	ENST00000591331.1	+	0	129																											CATATAAAAGTTTTTTTTTTT	0.308													2	4	---	---	---	---					
PDE4A	5141	broad.mit.edu	37	19	10578066	10578066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:10578066delC	ENST00000380702.2	+	16	2364	c.2364delC	c.(2362-2364)agfs	p.S788fs	PDE4A_ENST00000293683.5_Frame_Shift_Del_p.S784fs|PDE4A_ENST00000344979.3_Frame_Shift_Del_p.S571fs|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.S749fs|PDE4A_ENST00000592685.1_Frame_Shift_Del_p.S788fs|PDE4A_ENST00000352831.6_Frame_Shift_Del_p.S810fs			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	810					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCCACAGCAGCCCCTCTGCCC	0.632													14	103	---	---	---	---					
LOC100420587	100420587	broad.mit.edu	37	19	28948775	28948775	+	RNA	DEL	T	T	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:28948775delT	ENST00000592347.1	-	0	1232																											tctttctctcttttttttttt	0.403													2	4	---	---	---	---					
CTC-512J12.4	0	broad.mit.edu	37	19	44912432	44912433	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:44912432_44912433insA	ENST00000588655.1	-	0	488																											TAGGCTGACagaaaaaaacaaa	0.361													2	4	---	---	---	---					
NLRP7	199713	broad.mit.edu	37	19	55451547	55451547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr19:55451547delC	ENST00000588756.1	-	6	1126	c.640delG	c.(640-642)agfs	p.E214fs	NLRP7_ENST00000592784.1_Frame_Shift_Del_p.E214fs|NLRP7_ENST00000590030.1_Frame_Shift_Del_p.E214fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.E214fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.E214fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.E242fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.E214fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	214	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGGCTGAGCTCCTTGCAGCTG	0.562													12	31	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11074019	11074020	+	RNA	INS	-	-	TAAG	rs143192304		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:11074019_11074020insTAAG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gtaagaacaacaaaccacaatt	0.302													2	4	---	---	---	---					
AP000473.6	0	broad.mit.edu	37	21	18141638	18141639	+	RNA	DEL	AT	AT	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:18141638_18141639delAT	ENST00000444868.1	-	0	67																											actggcatacatatatatatat	0.490													2	4	---	---	---	---					
AP000233.4	0	broad.mit.edu	37	21	26616727	26616728	+	RNA	DEL	GT	GT	-	rs34087128		TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:26616727_26616728delGT	ENST00000409758.1	-	0	89																											CTGGTGGATGGTGTGTGTGTGT	0.411													3	4	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28797499	28797501	+	RNA	DEL	TCC	TCC	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chr21:28797499_28797501delTCC	ENST00000420186.2	-	0	202																											cttccttccttccccctccctcc	0.399													2	4	---	---	---	---					
RP11-733O18.1	0	broad.mit.edu	37	X	5643807	5643808	+	RNA	INS	-	-	A			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:5643807_5643808insA	ENST00000422914.1	-	0	376																											ATCACAAGTGGAAAAAAGAAAA	0.406													2	4	---	---	---	---					
TAF1	6872	broad.mit.edu	37	X	70621396	70621396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:70621396delG	ENST00000449580.1	+	25	3853	c.3802delG	c.(3802-3804)gtfs	p.G1268fs	TAF1_ENST00000276072.3_Frame_Shift_Del_p.G1289fs|TAF1_ENST00000373790.4_Frame_Shift_Del_p.G1268fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.G1289fs			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1268					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGGGCATGTGGTGCCATTGG	0.443													24	115	---	---	---	---					
LINC01201	104266960	broad.mit.edu	37	X	130150515	130150516	+	RNA	DEL	AG	AG	-			TCGA-17-Z010-01A-01W-0746-08	TCGA-17-Z010-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fb7916-74d0-4266-b5b8-705018e0e76b	bb7b1914-a5e5-4b72-adee-c6551142f0be	g.chrX:130150515_130150516delAG	ENST00000451431.1	-	0	134				RP1-23K20.2_ENST00000412420.1_RNA																							cacatggcgcagagagagagag	0.465													3	3	---	---	---	---					
