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
GPA33	10223	broad.mit.edu	37	1	167024212	167024212	+	Splice_Site	SNP	C	C	A	rs150875349	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:167024212C>A	ENST00000367868.3	-	6	1171		c.e6+1		GPA33_ENST00000527955.1_Splice_Site|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)							integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGACACTCACGGCCTTGCAT	0.552000													26	140					9.78485e-24	1.57716e-23	1	1	0
TNNI3K	51086	broad.mit.edu	37	1	74929136	74929136	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:74929136G>T	ENST00000370891.2	+	23	2342	c.2326G>T	c.(2326-2328)Gca>Tca	p.A776S	TNNI3K_ENST00000326637.3_Missense_Mutation_p.A675S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A776S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A776S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GGCTGCGGCAGCAGACATGGC	0.453000													198	187					2.23433e-129	4.95396e-129	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248202304	248202304	+	Silent	SNP	T	T	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248202304T>G	ENST00000366479.2	+	1	831	c.735T>G	c.(733-735)acT>acG	p.T245T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCCACCTCACTGTAGTGTCCT	0.498000													31	151					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467696	58467696	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:58467696C>A	ENST00000357552.3	-	23	2079	c.1854G>T	c.(1852-1854)tgG>tgT	p.W618C	SYCP2_ENST00000371001.2_Missense_Mutation_p.W618C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	618					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTACAGGTGTCCAACATGCCC	0.313000													30	50					2.37825e-27	4.04633e-27	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162463774	162463774	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:162463774G>T	ENST00000306100.5	-	9	1523	c.1087C>A	c.(1087-1089)Cat>Aat	p.H363N	FSTL5_ENST00000427802.2_Missense_Mutation_p.H362N|FSTL5_ENST00000379164.4_Missense_Mutation_p.H362N|FSTL5_ENST00000536695.1_Missense_Mutation_p.H362N|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	363	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCTCTGCATGGCACCTAAGA	0.458000													38	80					8.72198e-27	1.46362e-26	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50946090	50946090	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:50946090T>A	ENST00000374103.4	-	19	2505	c.2420A>T	c.(2419-2421)cAg>cTg	p.Q807L	OGDHL_ENST00000432695.1_Missense_Mutation_p.Q598L|OGDHL_ENST00000419399.1_Missense_Mutation_p.Q750L|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	807					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTCATAGAGCTGGCTCACCTC	0.622000													159	191					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631839	116631839	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:116631839C>A	ENST00000395715.3	-	3	1063	c.486G>T	c.(484-486)gaG>gaT	p.E162D	TRPS1_ENST00000520276.1_Missense_Mutation_p.E153D|TRPS1_ENST00000519076.1_Missense_Mutation_p.E103D|TRPS1_ENST00000220888.5_Missense_Mutation_p.E149D|TRPS1_ENST00000519674.1_Missense_Mutation_p.E149D	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	149					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCCTTTGTCTCCAGTGAGT	0.542000									Langer-Giedion syndrome				9	119					0.000442599	0.000465394	1	1	0
EDA2R	60401	broad.mit.edu	37	X	65835827	65835827	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:65835827C>A	ENST00000374719.3	-	2	92	c.36G>T	c.(34-36)tgG>tgT	p.W12C	EDA2R_ENST00000456230.2_Missense_Mutation_p.W12C|EDA2R_ENST00000450752.1_Missense_Mutation_p.W12C|EDA2R_ENST00000451436.2_Missense_Mutation_p.G7V|EDA2R_ENST00000253392.5_Missense_Mutation_p.W12C|EDA2R_ENST00000396050.1_Missense_Mutation_p.W12C	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	12					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CACACCGTCCCCATTGGTCCC	0.478000													32	8					1.8453e-21	2.81681e-21	1	1	0
ZNF300	91975	broad.mit.edu	37	5	150275758	150275758	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:150275758G>T	ENST00000446148.2	-	7	1518	c.1091C>A	c.(1090-1092)aCt>aAt	p.T364N	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.T348N|ZNF300_ENST00000394226.2_Missense_Mutation_p.T348N|ZNF300_ENST00000418587.2_Missense_Mutation_p.T312N	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTCCCCAGTGTGAACTCT	0.418000													50	20					2.67592e-24	4.37067e-24	1	1	0
RREB1	6239	broad.mit.edu	37	6	7231723	7231723	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:7231723G>T	ENST00000379938.2	+	10	3928	c.3391G>T	c.(3391-3393)Gct>Tct	p.A1131S	RREB1_ENST00000379933.3_Missense_Mutation_p.A1131S|RREB1_ENST00000349384.6_Missense_Mutation_p.A1131S|RREB1_ENST00000334984.6_Missense_Mutation_p.A1131S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1131					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGAGCCTCCCGCTCCAGCCAG	0.677000													3	9					0.115264	0.117421	1	1	0
TTLL7	79739	broad.mit.edu	37	1	84348659	84348659	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:84348659A>T	ENST00000260505.8	-	20	2907	c.2530T>A	c.(2530-2532)Tgg>Agg	p.W844R	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	844					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAATTACCCCAGTCAGGACCA	0.398000													114	102					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41599562	41599562	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:41599562T>A	ENST00000330436.3	+	6	859	c.859T>A	c.(859-861)Tac>Aac	p.Y287N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	287					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CACAGAGTTCTACTTGAAGAA	0.557000													40	46					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866689	106866689	+	RNA	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:106866689T>A	ENST00000390618.2	-	0	142																											CTCCACCAGCTGCACCTCACA	0.547000													18	593					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	476550	476550	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:476550C>T	ENST00000262305.4	+	1	932	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.P182S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	182	Pro-rich.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CGGGTCCCCGCCGCAGCCCTC	0.746000													3	3					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039129	5039129	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:5039129C>A	ENST00000574788.1	+	17	2800	c.570C>A	c.(568-570)agC>agA	p.S190R	USP6_ENST00000250066.6_Missense_Mutation_p.S190R|USP6_ENST00000332776.4_Missense_Mutation_p.S190R|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	190	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGACCTGAGCCACATCACCG	0.597000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								115	76					1.60923e-45	3.1924e-45	1	1	0
PDLIM5	10611	broad.mit.edu	37	4	95444992	95444992	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:95444992G>C	ENST00000317968.4	+	3	350	c.214G>C	c.(214-216)Ggt>Cgt	p.G72R	PDLIM5_ENST00000538141.1_Missense_Mutation_p.G72R|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G72R|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G72R|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G72R|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G72R|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G72R|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G72R	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	72	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TAAGATTAAGGGTTGTACAGG	0.408000													25	32					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34149647	34149647	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:34149647A>T	ENST00000588240.1	+	6	409	c.294A>T	c.(292-294)caA>caT	p.Q98H	TAF15_ENST00000311979.3_Missense_Mutation_p.Q95H|TAF15_ENST00000592237.1_Missense_Mutation_p.Q7H|AC015849.13_ENST00000589356.1_RNA|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	98	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TATTTAGCCAAGGTGGAAGAG	0.423000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								9	5					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682506	17682506	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:17682506C>A	ENST00000375448.4	+	12	1365	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	447					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCAGGCCCTGCAGGACTT	0.602000													70	62					2.38877e-28	4.09265e-28	1	1	0
FAM154B	283726	broad.mit.edu	37	15	82574560	82574560	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:82574560G>T	ENST00000339465.5	+	3	423	c.354G>T	c.(352-354)caG>caT	p.Q118H	FAM154B_ENST00000427381.2_Missense_Mutation_p.Q103H|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	118										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTACATTTCAGGATGATTTTG	0.398000													63	45					3.33906e-19	4.91333e-19	1	1	0
ZNF721	170960	broad.mit.edu	37	4	437208	437208	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:437208C>A	ENST00000338977.5	-	2	1060	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.V350L					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTCCTATGTACGTAAAGGTTT	0.428000													14	62					0.000219431	0.000231727	1	1	0
MYLK	4638	broad.mit.edu	37	3	123383052	123383052	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:123383052G>A	ENST00000360772.3	-	24	4263	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L	MYLK_ENST00000360304.3_Silent_p.L1295L|MYLK_ENST00000359169.1_Silent_p.L1295L|MYLK_ENST00000354792.5_Silent_p.L95L|MYLK_ENST00000346322.5_Silent_p.L1226L|MYLK_ENST00000475616.1_Silent_p.L1295L			Q15746	MYLK_HUMAN	myosin light chain kinase	1295	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAGGATGGTGAGCTTGCTGC	0.642000													128	181					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92030647	92030647	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:92030647C>T	ENST00000285419.3	-	4	771	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	153						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCCCACACACGACCCTTGTA	0.433000													66	483					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642000													82	138					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113323796	113323796	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:113323796G>T	ENST00000264852.4	+	14	2103	c.1377G>T	c.(1375-1377)gtG>gtT	p.V459V	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.V459V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	459						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CGCTGCCCGTGATCCAGCTGG	0.498000													72	96					1.73998e-50	3.5086e-50	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126734390	126734390	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:126734390G>T	ENST00000274473.6	+	8	949	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	MEGF10_ENST00000418761.2_Missense_Mutation_p.G228C|MEGF10_ENST00000508365.1_Missense_Mutation_p.G228C|MEGF10_ENST00000503335.2_Missense_Mutation_p.G228C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	228	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)		TTGTCCTCCTGGTAAACATGG	0.512000													48	33					9.22156e-22	1.42541e-21	1	1	0
PRF1	5551	broad.mit.edu	37	10	72360415	72360415	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:72360415C>T	ENST00000441259.1	-	2	404	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PRF1_ENST00000373209.2_Missense_Mutation_p.E82K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	82	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGGGTGCCCTCCTGTAGGGCA	0.667000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				12	14					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321768	106321768	+	RNA	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:106321768C>A	ENST00000390559.2	-	0	465																											ACGCCAGACCCCACCTGCTTC	0.627000													27	129					5.91797e-21	8.95001e-21	1	1	0
HECW1	23072	broad.mit.edu	37	7	43484399	43484399	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:43484399A>T	ENST00000395891.1	+	11	2233	c.1628A>T	c.(1627-1629)gAg>gTg	p.E543V	HECW1_ENST00000453890.1_Missense_Mutation_p.E543V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	543					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						TCCGAGCTGGAGACGGTGATC	0.672000													24	97					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289629	238289629	+	Missense_Mutation	SNP	C	C	T	rs149330325	byFrequency	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:238289629C>T	ENST00000295550.4	-	5	2278	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	COL6A3_ENST00000472056.1_Missense_Mutation_p.R202Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R403Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R408Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R609Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R403Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R403Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R202Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	609	Nonhelical region.|VWFA 3.				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)		TGGGGCGGCTCGGAACTCAGC	0.572000													6	25					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574134	44574134	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:44574134C>T	ENST00000289547.4	-	6	2133	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R693H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R693H|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R693H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	693	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGGAGGAGCGGATACCCAA	0.592000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	116					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515930	51515930	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:51515930G>T	ENST00000328188.1	+	1	649	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V217M(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GGTCTCCTATGTGGTCATCTT	0.502000													34	32					2.40579e-17	3.43685e-17	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			17	14					3.5997e-14	4.71618e-14	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128526	147128526	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:147128526C>A	ENST00000282928.4	+	1	1356	c.627C>A	c.(625-627)ggC>ggA	p.G209G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	209					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGCATCACGGCGCCGGCGCCT	0.637000													19	29					1.00905e-13	1.31498e-13	1	1	0
MMS22L	253714	broad.mit.edu	37	6	97676848	97676848	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:97676848C>G	ENST00000275053.4	-	14	2226	c.1961G>C	c.(1960-1962)aGt>aCt	p.S654T	MMS22L_ENST00000369251.2_Missense_Mutation_p.S614T	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	654					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGAAGCATACTAAATCCATC	0.413000													36	84					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128206873	128206873	+	Silent	SNP	G	G	A	rs146295355		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:128206873G>A	ENST00000265960.3	-	11	1682	c.1350C>T	c.(1348-1350)caC>caT	p.H450H	MAPKAP1_ENST00000373498.1_Silent_p.H450H|MAPKAP1_ENST00000373497.5_Silent_p.H163H|MAPKAP1_ENST00000373503.3_Silent_p.H258H|MAPKAP1_ENST00000394063.1_Silent_p.H258H|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.H414H|MAPKAP1_ENST00000373511.2_Silent_p.H403H	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	450					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TAAATATTGCGTGACCTGCAG	0.458000													30	67					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212576813	212576813	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:212576813G>C	ENST00000342788.4	-	9	1396	c.1086C>G	c.(1084-1086)atC>atG	p.I362M	ERBB4_ENST00000436443.1_Missense_Mutation_p.I362M|ERBB4_ENST00000402597.1_Missense_Mutation_p.I362M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	362					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)		AATTCCCATTGATCTTGGTAC	0.358000										TSP Lung(8;0.080)			39	28					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776207	159776207	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:159776207A>T	ENST00000393975.3	-	3	964	c.961T>A	c.(961-963)Tat>Aat	p.Y321N		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	276						collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCGGCATAGATTAGGAAG	0.552000													56	34					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978640	39978640	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:39978640C>A	ENST00000321562.4	+	10	1833	c.1729C>A	c.(1729-1731)Cgg>Agg	p.R577R	FKBP10_ENST00000544340.1_Silent_p.R350R	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	577	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACGAGGAGCGGGTCCACGA	0.612000													7	5					0.0809354	0.0826215	1	1	0
LPPR5	163404	broad.mit.edu	37	1	99422227	99422227	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:99422227G>T	ENST00000370188.3	-	2	668	c.308C>A	c.(307-309)aCt>aAt	p.T103N	LPPR5_ENST00000263177.4_Missense_Mutation_p.T103N	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		103						integral to membrane	hydrolase activity										AGTTAAAATAGTTTTTTCCTG	0.338000													26	33					2.47316e-13	3.19749e-13	1	1	0
GAP43	2596	broad.mit.edu	37	3	115395234	115395234	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:115395234C>G	ENST00000393780.3	+	3	981	c.513C>G	c.(511-513)gcC>gcG	p.A171A	GAP43_ENST00000305124.6_Silent_p.A135A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	135					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAGAAGGCCGGCTCAGCTG	0.592000													17	20					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58076196	58076196	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:58076196G>T	ENST00000219271.3	+	7	2011	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	409	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ATGCCCATCGGGCACTTCTGG	0.617000													19	21					2.37509e-13	3.07882e-13	1	1	0
JARID2	3720	broad.mit.edu	37	6	15468783	15468783	+	Silent	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:15468783G>C	ENST00000341776.2	+	5	748	c.504G>C	c.(502-504)gcG>gcC	p.A168A	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Silent_p.A130A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	168					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.A168A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTTCTCCTGCGCTGCCCAACA	0.483000													9	58					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327815	57327815	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:57327815G>A	ENST00000326441.9	-	10	2358	c.1995C>T	c.(1993-1995)acC>acT	p.T665T	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.T541T|PEG3_ENST00000593695.1_Silent_p.T539T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.T665T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	665					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T665T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGGAATAAAGGTTTCCTCAC	0.443000													46	57					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64402876	64402876	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:64402876G>T	ENST00000265459.6	-	18	3913	c.3452C>A	c.(3451-3453)aCg>aAg	p.T1151K	NRXN2_ENST00000377551.1_Missense_Mutation_p.T1151K|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1111K|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1144K|NRXN2_ENST00000301894.2_Missense_Mutation_p.T105K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1151	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGGGGCCACGTGTAGGTGAT	0.627000													15	23					1.37657e-19	2.03782e-19	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447720	63447720	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:63447720A>G	ENST00000322893.7	-	6	1080	c.812T>C	c.(811-813)gTg>gCg	p.V271A	KCNH5_ENST00000394964.2_Missense_Mutation_p.V213A|KCNH5_ENST00000394968.1_Missense_Mutation_p.V213A|KCNH5_ENST00000420622.2_Missense_Mutation_p.V271A	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	271					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCGGGCCCCACGAAAGTCGT	0.428000													14	7					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27373726	27373726	+	Silent	SNP	C	C	G	rs150787891		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:27373726C>G	ENST00000395762.2	+	11	1312	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	IL4R_ENST00000543915.2_Silent_p.L351L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Silent_p.L351L|IL4R_ENST00000380922.3_Silent_p.L336L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	351					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGACAGTCCTCTGGCCAGAGA	0.542000													34	62					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463126	26463126	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:26463126C>T	ENST00000265944.5	+	30	4099	c.3933C>T	c.(3931-3933)acC>acT	p.T1311T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1311					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGTAGTTACCCAGCGTGCAC	0.463000													8	33					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175215	165175215	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:165175215C>A	ENST00000342310.3	-	8	1256	c.874G>T	c.(874-876)Gct>Tct	p.A292S	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.A292S|LMX1A_ENST00000367893.4_Missense_Mutation_p.A292S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTGGGCAGAGCCGTGTAGGGG	0.582000													40	121					1.8453e-21	2.81681e-21	1	1	0
TENM3	55714	broad.mit.edu	37	4	183721399	183721399	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:183721399G>T	ENST00000511685.1	+	28	8118	c.7995G>T	c.(7993-7995)caG>caT	p.Q2665H	TENM3_ENST00000406950.2_Missense_Mutation_p.Q2665H					teneurin transmembrane protein 3																		GCAAGGTGCAGGGCTACGACG	0.701000													19	15					8.34094e-07	9.35254e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9007522	9007522	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:9007522G>T	ENST00000397910.4	-	43	39649	c.39446C>A	c.(39445-39447)aCc>aAc	p.T13149N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13151					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						AGTCCCTGAGGTTCCAAGGTC	0.498000													12	25					1.05317e-09	1.23754e-09	1	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46106022	46106022	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:46106022A>G	ENST00000355105.3	-	8	1964	c.604T>C	c.(604-606)Tcc>Ccc	p.S202P	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S202P	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCCTCTTTGGAAACTTTTTTG	0.463000													42	309					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069954	150069954	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:150069954G>T	ENST00000397281.2	+	4	2113	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542S|REPIN1_ENST00000425389.2_Missense_Mutation_p.A542S|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542S|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599S	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657000													27	49					9.17885e-22	1.4233e-21	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685497	248685497	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248685497C>A	ENST00000343414.4	+	1	582	c.550C>A	c.(550-552)Ctc>Atc	p.L184I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTGCCAGTGCTCATCAAACT	0.512000													55	40					2.25088e-17	3.23441e-17	1	1	0
NRG1	3084	broad.mit.edu	37	8	32505335	32505335	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:32505335G>T	ENST00000520502.2	+	1	99	c.99G>T	c.(97-99)ccG>ccT	p.P33P	NRG1_ENST00000405005.2_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGGGCTTCCGGCAGCAGAAG	0.622000													8	13					1.06961e-07	1.22456e-07	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587801	55587801	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:55587801C>A	ENST00000333976.4	+	1	716	c.696C>A	c.(694-696)gtC>gtA	p.V232V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V232V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCGTTCAGTCAGTGGGCGCC	0.493000													28	100					1.39649e-27	2.38425e-27	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182025565	182025565	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:182025565G>T	ENST00000339948.3	-	2	1788	c.1581C>A	c.(1579-1581)aaC>aaA	p.N527K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCTCTCTCCGTTGTGCATTC	0.612000													20	23					2.89027e-11	3.54945e-11	1	1	0
GPR125	166647	broad.mit.edu	37	4	22389413	22389413	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:22389413C>G	ENST00000334304.5	-	19	4150	c.3881G>C	c.(3880-3882)aGc>aCc	p.S1294T	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1294					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGCCCATTGCTTTTAATTGG	0.448000													19	61					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100352852	100352852	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:100352852G>T	ENST00000542585.1	+	0	3276				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCTTAGAGCGCTGCCCTCCA	0.572000													71	213					1.86864e-30	3.24693e-30	1	1	0
USP26	83844	broad.mit.edu	37	X	132161911	132161911	+	Missense_Mutation	SNP	C	C	A	rs150401753		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:132161911C>A	ENST00000511190.1	-	6	807	c.338G>T	c.(337-339)gGt>gTt	p.G113V	USP26_ENST00000406273.1_Missense_Mutation_p.G113V|USP26_ENST00000370832.1_Missense_Mutation_p.G113V	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	113					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCCACCCTTACCAGGTCTCAC	0.398000													33	15					4.92203e-23	7.80515e-23	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127014829	127014829	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:127014829C>A	ENST00000393313.1	-	5	1152	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZNF800_ENST00000265827.3_Missense_Mutation_p.E187D|ZNF800_ENST00000393312.1_Missense_Mutation_p.E187D			Q2TB10	ZN800_HUMAN	zinc finger protein 800	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAGTTTCCACCTCTGTATCTG	0.453000													69	109					2.60632e-51	5.27725e-51	1	1	0
CTAG2	30848	broad.mit.edu	37	X	153881556	153881556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:153881556G>T	ENST00000247306.4	-	1	297	c.234C>A	c.(232-234)tgC>tgA	p.C78*	CTAG2_ENST00000369585.3_Nonsense_Mutation_p.C78*	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	78	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGCCCCGCAGGGGCACC	0.701000													20	12					2.70639e-06	2.99353e-06	1	1	0
DNAJC10	54431	broad.mit.edu	37	2	183608325	183608325	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:183608325G>T	ENST00000264065.6	+	14	1607	c.1191_splice	c.e14-1	p.V398_splice		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	398					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTCCTTTAGGTTGGCAGGTT	0.368000													33	30					2.87052e-16	3.99589e-16	1	1	0
LGI2	55203	broad.mit.edu	37	4	25005367	25005367	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:25005367C>A	ENST00000382114.4	-	8	1529	c.1344G>T	c.(1342-1344)tgG>tgT	p.W448C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	448						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCTTACTGTTCCACCTCATGA	0.537000													110	188					2.5327e-61	5.41931e-61	1	1	0
RSF1	51773	broad.mit.edu	37	11	77411766	77411766	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:77411766C>A	ENST00000308488.6	-	6	2810	c.2508_splice	c.e6+1	p.K836_splice	RSF1_ENST00000480887.1_Splice_Site_p.K584_splice|RSF1_ENST00000360355.2_Splice_Site_p.K805_splice			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	836					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAGTTTTACCTTGCTTACTT	0.284000													9	25					0.00621372	0.00645068	1	1	0
UACA	55075	broad.mit.edu	37	15	70975135	70975135	+	Splice_Site	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:70975135C>T	ENST00000322954.6	-	9	970		c.e9-1		UACA_ENST00000379983.2_Splice_Site|UACA_ENST00000539319.1_Intron|UACA_ENST00000559183.1_Splice_Site|UACA_ENST00000560441.1_Splice_Site	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats							cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGTTCTCTCCCTAAGATTTAG	0.294000													17	10					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291591	141291591	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:141291591C>G	ENST00000247452.3	-	3	530	c.183G>C	c.(181-183)ctG>ctC	p.L61L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	61						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532000										HNSCC(46;0.14)			38	21					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18189125	18189125	+	Silent	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:18189125G>C	ENST00000380033.4	-	13	2313	c.2181C>G	c.(2179-2181)ctC>ctG	p.L727L	BEND2_ENST00000380030.3_Silent_p.L636L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	727	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAAACCTCGGAGAGCACTAA	0.408000													66	23					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50709781	50709781	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:50709781T>C	ENST00000300590.3	-	3	354	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	SNX20_ENST00000330943.4_Missense_Mutation_p.Q61R|SNX20_ENST00000423026.2_Missense_Mutation_p.Q61R	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	61					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CCAGTACTGCTGAAGCTCCCG	0.537000													31	39					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139642963	139642963	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:139642963C>A	ENST00000303045.6	-	50	4084	c.3638G>T	c.(3637-3639)gGa>gTa	p.G1213V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1193V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1213	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGGTGGTCCAGCAGCTCC	0.468000										HNSCC(7;0.00092)			106	139					9.19936e-45	1.81762e-44	1	1	0
CCL15	6359	broad.mit.edu	37	17	34325331	34325331	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:34325331G>T	ENST00000354059.4	-	3	785	c.233C>A	c.(232-234)tCc>tAc	p.S78Y	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S78Y|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	78					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTGGCTTGGAGCACTCGCT	0.527000													14	14					2.35188e-11	2.90283e-11	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80771659	80771659	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:80771659C>A	ENST00000458043.2	+	58	6872	c.6866C>A	c.(6865-6867)cCa>cAa	p.P2289Q	OTOGL_ENST00000546620.1_Missense_Mutation_p.P308Q|OTOGL_ENST00000547103.1_Missense_Mutation_p.P2277Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCAAATGCCCATCAGCTACC	0.353000													13	6					2.35188e-11	2.90283e-11	1	1	0
PALB2	79728	broad.mit.edu	37	16	23647469	23647469	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:23647469C>A	ENST00000261584.4	-	4	550	c.398G>T	c.(397-399)aGt>aTt	p.S133I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	133	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTAGGGTCACTGACCCTGTG	0.483000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					18	42					2.37509e-13	3.07882e-13	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108604024	108604024	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:108604024C>A	ENST00000332082.4	+	5	1442	c.624C>A	c.(622-624)ggC>ggA	p.G208G	WSCD2_ENST00000547525.1_Silent_p.G208G|WSCD2_ENST00000549903.1_Silent_p.G208G|WSCD2_ENST00000261400.3_Silent_p.G208G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	208	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGTGTGCGGCGGCGCCAACC	0.682000													12	4					1.61879e-10	1.92995e-10	1	1	0
BCOR	54880	broad.mit.edu	37	X	39931884	39931884	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:39931884C>A	ENST00000342274.4	-	4	3077	c.2715G>T	c.(2713-2715)ctG>ctT	p.L905L	BCOR_ENST00000397354.3_Silent_p.L905L|BCOR_ENST00000378444.4_Silent_p.L905L|BCOR_ENST00000378455.4_Silent_p.L905L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	905					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGCTCCCCAGAGGTGGCT	0.542000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						21	12					7.33532e-06	8.00514e-06	1	1	0
LILRA1	11024	broad.mit.edu	37	19	55106225	55106225	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:55106225C>G	ENST00000453777.1	+	4	336	c.166C>G	c.(166-168)Cag>Gag	p.Q56E	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.Q56E|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGGAGACCCAGGAGTACCG	0.582000													28	56					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370468	35370468	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:35370468G>T	ENST00000373347.1	-	3	785	c.517C>A	c.(517-519)Ctg>Atg	p.L173M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.L173M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	173					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GAATGAACCAGGTGCCGGATG	0.672000													20	54					8.58068e-18	1.24395e-17	1	1	0
ZNF599	148103	broad.mit.edu	37	19	35251148	35251148	+	Silent	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:35251148T>C	ENST00000329285.7	-	4	931	c.558A>G	c.(556-558)ccA>ccG	p.P186P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGTCTTTTCCTGGTCCTTGAG	0.478000													34	62					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938434	14938434	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:14938434C>A	ENST00000322301.3	-	2	707	c.620G>T	c.(619-621)gGt>gTt	p.G207V	OR7A5_ENST00000594432.1_Missense_Mutation_p.G207V|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGGACCTCCACCCAGCAGCGC	0.428000													22	34					1.96895e-08	2.28081e-08	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147375	26147375	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:26147375G>T	ENST00000331351.5	+	2	1569	c.1177G>T	c.(1177-1179)Ggg>Tgg	p.G393W	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	393					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAACCAAGGGGTTCCCTTG	0.507000													8	12					6.40141e-05	6.8041e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:7579591C>A	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAGGGGGACTGTAGATGGG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			140	103					4.92731e-44	9.65752e-44	1	1	0
NID2	22795	broad.mit.edu	37	14	52485851	52485851	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:52485851G>T	ENST00000216286.5	-	14	2955	c.2956C>A	c.(2956-2958)Cct>Act	p.P986T	NID2_ENST00000541773.1_Missense_Mutation_p.P885T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	986	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGACCATCAGGGTCCACGCAC	0.617000													80	43					4.08182e-41	7.84351e-41	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31852859	31852859	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:31852859C>A	ENST00000543095.2	-	10	1648	c.1464G>T	c.(1462-1464)ttG>ttT	p.L488F	HEATR5A_ENST00000389961.3_Missense_Mutation_p.L482F|HEATR5A_ENST00000404677.3_Missense_Mutation_p.L488F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L195F|HEATR5A_ENST00000439348.1_Missense_Mutation_p.L482F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	482							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGCAACGATCCAAGAGTGGTG	0.463000													71	433					2.58158e-40	4.92208e-40	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174764	140174764	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140174764G>T	ENST00000526136.1	+	1	215	c.215G>T	c.(214-216)gGg>gTg	p.G72V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G72V|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGACACGGGGACCTTCTG	0.622000													22	86					3.42828e-54	6.9994e-54	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56473463	56473463	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:56473463G>T	ENST00000291971.3	+	4	2144	c.2073G>T	c.(2071-2073)tgG>tgT	p.W691C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W691C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	691						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGCATCGTTGGTGGCAAGACT	0.488000													56	83					1.04643e-32	1.84442e-32	1	1	0
FGL2	10875	broad.mit.edu	37	7	76825712	76825712	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:76825712G>C	ENST00000248598.5	-	2	1236	c.1204C>G	c.(1204-1206)Cgt>Ggt	p.R402G	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	402	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATCCCATTACGGACACCTCTG	0.468000													20	74					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698362	49698362	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:49698362C>T	ENST00000296452.4	+	6	9198	c.9084C>T	c.(9082-9084)ccC>ccT	p.P3028P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3028					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCACCACTCCCGCTGGCCAGT	0.662000													48	60					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722272	14722272	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:14722272G>T	ENST00000380911.3	-	1	443	c.399C>A	c.(397-399)ttC>ttA	p.F133L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	133					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AGTGGTGCCAGAATTTCTTGG	0.512000													20	16					1.50039e-11	1.86124e-11	1	1	0
KPNA5	3841	broad.mit.edu	37	6	117019962	117019962	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:117019962G>T	ENST00000368564.1	+	5	583		c.e5+1		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CACTTTACAAGTGAGTCTAAA	0.303000													8	9					0.00448238	0.00467312	1	1	0
GTPBP3	84705	broad.mit.edu	37	19	17452109	17452109	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:17452109C>A	ENST00000324894.8	+	8	1299	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.L433M|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L443M|GTPBP3_ENST00000600625.1_Missense_Mutation_p.L390M	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	411					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGGAGGCGCTGAGGAAGGA	0.652000													8	20					0.27861	0.280327	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84605879	84605879	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:84605879C>A	ENST00000344803.2	+	4	541	c.494C>A	c.(493-495)gCg>gAg	p.A165E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCGGCTTCTGCGACTGAGTCA	0.562000													25	61					5.77227e-19	8.4683e-19	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588620	247588620	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:247588620C>A	ENST00000366497.2	+	4	2655	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	NLRP3_ENST00000348069.2_Silent_p.P625P|NLRP3_ENST00000391828.3_Silent_p.P625P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.P625P|NLRP3_ENST00000391827.2_Silent_p.P625P|NLRP3_ENST00000336119.3_Silent_p.P625P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	625					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)			AGATCCAGCCCAGCCAGCTGG	0.463000													27	26					1.3203e-36	2.45056e-36	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38913149	38913149	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:38913149C>G	ENST00000302328.3	-	21	3744	c.3546G>C	c.(3544-3546)ttG>ttC	p.L1182F	SCN11A_ENST00000450244.1_Missense_Mutation_p.L1182F|SCN11A_ENST00000456224.3_Missense_Mutation_p.L1144F|SCN11A_ENST00000444237.2_Missense_Mutation_p.L1182F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1182					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGCAGACAAGCAAAACATTCA	0.398000													12	15					0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65835828	65835828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:65835828C>T	ENST00000374719.3	-	2	91	c.35G>A	c.(34-36)tGg>tAg	p.W12*	EDA2R_ENST00000456230.2_Nonsense_Mutation_p.W12*|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.W12*|EDA2R_ENST00000451436.2_Missense_Mutation_p.G7R|EDA2R_ENST00000253392.5_Nonsense_Mutation_p.W12*|EDA2R_ENST00000396050.1_Nonsense_Mutation_p.W12*	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	12					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACACCGTCCCCATTGGTCCCA	0.483000													31	8					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152049369	152049369	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:152049369T>A	ENST00000409598.4	-	18	3209	c.2042A>T	c.(2041-2043)cAg>cTg	p.Q681L	SH3D19_ENST00000304527.4_Missense_Mutation_p.Q704L|SH3D19_ENST00000455740.1_Missense_Mutation_p.Q681L|SH3D19_ENST00000409252.2_Missense_Mutation_p.Q704L|SH3D19_ENST00000427414.2_Missense_Mutation_p.Q645L|SH3D19_ENST00000514152.1_Missense_Mutation_p.Q681L|SH3D19_ENST00000424281.1_Missense_Mutation_p.Q645L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	704	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CTCCCTGTCCTGCAGTCTGCC	0.542000													12	42					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415446	210415446	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:210415446G>T	ENST00000367012.3	+	4	1065	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	279							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCAGGAAAAGGCCAAATTAAA	0.433000													25	36					1.55811e-20	2.33478e-20	1	1	0
S100A12	6283	broad.mit.edu	37	1	153347001	153347001	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:153347001C>T	ENST00000368737.3	-	2	185	c.68G>A	c.(67-69)gGg>gAg	p.G23E		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	23	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GTCAAAATGCCCCTTCCGAAC	0.463000													69	197					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137709648	137709648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:137709648G>T	ENST00000371817.3	+	54	4615	c.4201G>T	c.(4201-4203)Gaa>Taa	p.E1401*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1401	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGCAGGCCCCGAAGGCAGACA	0.662000													9	9					2.80697e-09	3.2748e-09	1	1	0
NBEA	26960	broad.mit.edu	37	13	36229811	36229811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr13:36229811G>T	ENST00000540320.1	+	54	8758	c.8224G>T	c.(8224-8226)Gga>Tga	p.G2742*	NBEA_ENST00000400445.3_Nonsense_Mutation_p.G2742*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.G2739*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.G2742*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.G535*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.G320*			Q8NFP9	NBEA_HUMAN	neurobeachin	2742						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCGTGTCCGGATCTCGAGA	0.512000													61	59					3.07184e-27	5.19035e-27	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829491	146829491	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:146829491G>T	ENST00000361727.3	+	8	1754	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	413	Laminin G-like 2.				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)			CTGGTCTTCAGTCACTTTGCG	0.488000										HNSCC(39;0.1)			45	38					3.21987e-24	5.22429e-24	1	1	0
SYT13	57586	broad.mit.edu	37	11	45274074	45274074	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:45274074G>T	ENST00000020926.3	-	4	855	c.744C>A	c.(742-744)cgC>cgA	p.R248R		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	248	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GACGGGAGAAGCGGTCGCAGG	0.697000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	58					1.33987e-11	1.67058e-11	1	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92821673	92821673	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:92821673G>T	ENST00000394468.2	-	9	1356	c.1279C>A	c.(1279-1281)Cca>Aca	p.P427T	HEPACAM2_ENST00000440868.1_Silent_p.S406S|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P415T|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P450T	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	427						integral to membrane		p.P415S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACCTGCTTGGGATCTAGAAA	0.398000													50	73					1.86277e-20	2.7828e-20	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16539513	16539513	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:16539513C>A	ENST00000602009.1	-	2	991	c.96_splice	c.e2+1	p.V32_splice	EPS15L1_ENST00000535753.2_Splice_Site_p.V186_splice|EPS15L1_ENST00000455140.2_Splice_Site_p.V186_splice|EPS15L1_ENST00000248070.6_Splice_Site_p.V186_splice|EPS15L1_ENST00000597937.1_Splice_Site_p.V186_splice|EPS15L1_ENST00000594975.1_Splice_Site_p.V186_splice			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	186	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CAGGACTTACCACAGCGAACT	0.522000													8	25					3.07112e-06	3.3741e-06	1	1	0
NELFA	7469	broad.mit.edu	37	4	1989707	1989707	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:1989707C>A	ENST00000382882.3	-	4	1722	c.605G>T	c.(604-606)cGg>cTg	p.R202L	NELFA_ENST00000411638.1_Missense_Mutation_p.R191L|NELFA_ENST00000542778.1_Missense_Mutation_p.R56L	NM_005663.4	NP_005654.3			negative elongation factor complex member A									p.R191Q(1)									CCCGGCGCTCCGCTTCAACTG	0.622000													3	22					1	1	1	1	0
FLG2	388698	broad.mit.edu	37	1	152325157	152325157	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:152325157G>C	ENST00000388718.5	-	3	5177	c.5105C>G	c.(5104-5106)aCc>aGc	p.T1702S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1702							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTAGTGGTATCTCCTGT	0.483000													254	281					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425840	57425840	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:57425840C>A	ENST00000371237.4	-	2	168	c.102G>T	c.(100-102)agG>agT	p.R34S	C8B_ENST00000543257.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	34					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGAATGTGGCCTTTCACCTC	0.398000													20	87					3.6726e-16	5.08355e-16	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139144961	139144961	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:139144961C>T	ENST00000395297.1	-	20	4266	c.4096G>A	c.(4096-4098)Gtg>Atg	p.V1366M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1366										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGTGGAACACGTTGTGTCGG	0.532000										HNSCC(54;0.14)			97	539					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167149859	167149859	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:167149859C>A	ENST00000375387.4	-	9	1332	c.992G>T	c.(991-993)tGt>tTt	p.C331F	SCN9A_ENST00000409672.1_Missense_Mutation_p.C330F|SCN9A_ENST00000409435.1_Missense_Mutation_p.C330F|SCN9A_ENST00000303354.6_Missense_Mutation_p.C331F|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	330						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATTTTCACACAGGTGTACCC	0.438000													14	3					3.5997e-14	4.71618e-14	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130399505	130399505	+	Silent	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:130399505T>A	ENST00000356763.3	-	19	4415	c.3858A>T	c.(3856-3858)ccA>ccT	p.P1286P	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1286					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGACACAGATGGGGAACTAG	0.413000													11	33					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30954286	30954286	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:30954286G>T	ENST00000298139.5	+	17	2150	c.1901G>T	c.(1900-1902)gGt>gTt	p.G634V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	634	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ttttACAGAGGTAAATACCGG	0.328000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	22					5.4927e-09	6.39293e-09	1	1	0
EFCAB12	90288	broad.mit.edu	37	3	129140527	129140527	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:129140527G>A	ENST00000505956.1	-	2	331	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R57W	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		ATGATTCGCCGGCGGGTCTGA	0.557000													13	32					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811081	116811081	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:116811081T>C	ENST00000288466.7	+	14	1319	c.1220T>C	c.(1219-1221)gTa>gCa	p.V407A	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.V500A	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGACCTTAGTAGACAGTGGT	0.592000													3	22					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825543	26825543	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:26825543C>A	ENST00000541819.2	-	7	875	c.773G>T	c.(772-774)gGa>gTa	p.G258V	GABRB3_ENST00000299267.4_Missense_Mutation_p.G202V|GABRB3_ENST00000311550.5_Missense_Mutation_p.G202V|GABRB3_ENST00000545868.1_Missense_Mutation_p.G117V|GABRB3_ENST00000400188.3_Missense_Mutation_p.G131V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	202					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTTTCCACTCCGGTAACAGC	0.537000													33	59					3.03874e-20	4.52578e-20	1	1	0
SAMD11	148398	broad.mit.edu	37	1	874763	874763	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:874763G>A	ENST00000342066.3	+	7	712	c.629G>A	c.(628-630)cGc>cAc	p.R210H		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	210						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GACCCTCAGCGCCTCTACCAC	0.682000													5	50					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066418	67066418	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:67066418C>T	ENST00000315962.4	+	9	1746	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	TRIM55_ENST00000276573.7_Missense_Mutation_p.P458L|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	458						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCAACCCACCTTGCACCCCA	0.567000													12	40					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502532	20502532	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:20502532G>A	ENST00000315693.2	-	1	387	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTAATGGAGGGGTTTGCATAT	0.478000													39	381					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17743046	17743046	+	Silent	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:17743046A>G	ENST00000398056.2	-	4	833	c.18T>C	c.(16-18)agT>agC	p.S6S	FGL1_ENST00000522444.1_Silent_p.S6S|FGL1_ENST00000398054.1_Silent_p.S6S|FGL1_ENST00000381840.2_Silent_p.S6S|FGL1_ENST00000427924.1_Silent_p.S6S|FGL1_ENST00000381841.2_Silent_p.S6S|FGL1_ENST00000518650.1_Silent_p.S6S			Q08830	FGL1_HUMAN	fibrinogen-like 1	6					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGGATGAAACTGAACACCT	0.368000													13	28					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324562	31324562	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:31324562C>A	ENST00000269197.5	+	12	4750	c.4750C>A	c.(4750-4752)Cgt>Agt	p.R1584S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGCAGGCACGTGGCCCAGC	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	4					1.58986e-06	1.76652e-06	1	1	0
ABCB6	10058	broad.mit.edu	37	2	220082438	220082438	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:220082438T>C	ENST00000265316.3	-	2	957	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	ABCB6_ENST00000439002.2_Intron	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	214					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAATGTATAGGACTGGGG	0.517000													55	28					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183522201	183522201	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:183522201G>A	ENST00000511685.1	+	4	759	c.636G>A	c.(634-636)agG>agA	p.R212R	TENM3_ENST00000406950.2_Silent_p.R212R					teneurin transmembrane protein 3																		CCAATAGAAGGAACCAGAGTC	0.587000													76	116					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70799954	70799954	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:70799954C>T	ENST00000246891.4	+	3	125	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	CSN1S1_ENST00000505782.1_Missense_Mutation_p.R26C|CSN1S1_ENST00000444405.3_Missense_Mutation_p.R26C|CSN1S1_ENST00000507772.1_Missense_Mutation_p.R26C|CSN1S1_ENST00000507763.1_Missense_Mutation_p.R26C	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	26						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ATACCCAGAACGCCTTCAGGT	0.338000													12	55					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964426	166964426	+	Splice_Site	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:166964426C>G	ENST00000061240.2	+	12	2026	c.1378_splice	c.e12-1	p.A460_splice	TLL1_ENST00000507499.1_Splice_Site_p.A460_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	460	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTCTTCAGCGATCTGTGGA	0.383000													40	82					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397793	10397793	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:10397793G>A	ENST00000393717.2	+	1	114	c.105G>A	c.(103-105)aaG>aaA	p.K35K	ICAM4_ENST00000380770.3_Silent_p.K35K|ICAM4_ENST00000340992.4_Silent_p.K35K|CTD-2369P2.8_ENST00000589379.1_RNA	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	35					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAAGCCCCAAGGGTAGCCCTC	0.657000													5	16					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15307344	15307344	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:15307344T>A	ENST00000281513.5	-	52	6969	c.6944A>T	c.(6943-6945)cAc>cTc	p.H2315L	NBAS_ENST00000441750.1_Missense_Mutation_p.H2195L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2315										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCCAAGAGGTGGTCAACAAT	0.572000													24	19					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617810	100617810	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr13:100617810G>T	ENST00000267294.4	-	2	2046	c.1813C>A	c.(1813-1815)Cca>Aca	p.P605T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	605					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCTGGCTGGGTCCAGCACA	0.627000													27	30					2.48779e-11	3.06286e-11	1	1	0
IGFLR1	79713	broad.mit.edu	37	19	36231353	36231353	+	Silent	SNP	G	G	A	rs142389199		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:36231353G>A	ENST00000592537.1	-	3	370	c.270C>T	c.(268-270)agC>agT	p.S90S	IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Silent_p.S90S|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	90						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CGCCGCAGGGGCTACATAGCT	0.677000													17	31					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173414	126173414	+	Missense_Mutation	SNP	G	G	C	rs77222071		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:126173414G>C	ENST00000339582.2	-	9	2830	c.2022C>G	c.(2020-2022)caC>caG	p.H674Q	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.H674Q|GRM8_ENST00000444921.2_Missense_Mutation_p.H674Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	674					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAATATTCGGTGGATACGGT	0.507000										HNSCC(24;0.065)			34	106					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447569	110447569	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:110447569C>A	ENST00000378402.5	+	29	3595	c.3491C>A	c.(3490-3492)tCt>tAt	p.S1164Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1164	IPT/TIG 5.				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)			TGGCCTGATTCTGGAAGCATA	0.423000										HNSCC(38;0.096)			150	273					4.54062e-68	9.88847e-68	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73450153	73450153	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:73450153A>T	ENST00000263666.4	-	5	1288	c.1174T>A	c.(1174-1176)Tca>Aca	p.S392T	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S114T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S49T|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S109T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S49T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	392							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCATGGGCTGAGGGATGCCTG	0.473000													48	60					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175025	55175025	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:55175025G>T	ENST00000391736.1	+	4	385	c.70_splice	c.e4+1	p.G24_splice	LILRB4_ENST00000391734.3_Splice_Site_p.G24_splice|LILRB4_ENST00000391733.3_Splice_Site_p.G24_splice|LILRB4_ENST00000270452.2_Splice_Site_p.G24_splice|LILRB4_ENST00000430952.2_Splice_Site_p.G24_splice	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	24						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATGCAGGCAGGTGAGTCTGT	0.627000													20	78					2.39556e-15	3.26063e-15	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13761687	13761687	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:13761687C>G	ENST00000279593.3	-	9	2069	c.1860G>C	c.(1858-1860)gtG>gtC	p.V620V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	620					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGGTTCTGCACAGGTACGG	0.522000													29	21					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26951321	26951321	+	Missense_Mutation	SNP	C	C	A	rs150805907	byFrequency	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:26951321C>A	ENST00000528896.2	-	25	4756	c.4682G>T	c.(4681-4683)tGt>tTt	p.C1561F	KIAA0100_ENST00000544884.1_Missense_Mutation_p.C1418F|KIAA0100_ENST00000389003.3_Missense_Mutation_p.C1418F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1561						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCAATGCCACACAACTGGTC	0.438000													66	44					1.7488e-33	3.11604e-33	1	1	0
RIMS1	22999	broad.mit.edu	37	6	73000514	73000514	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:73000514G>C	ENST00000521978.1	+	25	3687	c.3687G>C	c.(3685-3687)atG>atC	p.M1229I	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1229					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGTGTTCTATGCACCACCTTG	0.557000													15	40					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160908411	160908411	+	RNA	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:160908411C>A	ENST00000335388.5	-	0	561					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CGTTGTATAACACCAAGGGCC	0.493000													23	53					2.21704e-12	2.79986e-12	1	1	0
TRBV6-4	28603	broad.mit.edu	37	7	142250739	142250739	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:142250739G>T	ENST00000390360.3	-	0	328																											AGATGTCTGAGAGGGTACAGC	0.542000													44	207					1.73933e-33	3.11048e-33	1	1	0
ANGEL1	23357	broad.mit.edu	37	14	77275766	77275766	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:77275766C>A	ENST00000251089.2	-	2	397	c.285G>T	c.(283-285)atG>atT	p.M95I	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	95										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGATTATCCATCAGAAGTG	0.557000													29	23					6.05902e-23	9.57716e-23	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248058987	248058987	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248058987C>G	ENST00000537741.1	+	3	356	c.99C>G	c.(97-99)atC>atG	p.I33M	OR2W3_ENST00000360358.3_Missense_Mutation_p.I33M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TCATCCTGATCGCGTACCTCC	0.567000													59	220					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378191	149378191	+	RNA	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:149378191C>A	ENST00000415338.1	-	0	1061																											ACTTGCTCCCCGTGAGCACTG	0.537000													14	19					6.72482e-11	8.15635e-11	1	1	0
SUPT16H	11198	broad.mit.edu	37	14	21840048	21840048	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:21840048C>G	ENST00000216297.2	-	3	653	c.315G>C	c.(313-315)ctG>ctC	p.L105L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	105					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCGTATTAGCAGTGTGATGG	0.383000													103	59					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098983	78098983	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:78098983C>A	ENST00000370801.3	-	5	532	c.57G>T	c.(55-57)ttG>ttT	p.L19F	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AAGATTCATCCAAGCCGTTTA	0.418000													60	55					6.5469e-37	1.21976e-36	1	1	0
CNTD1	124817	broad.mit.edu	37	17	40958713	40958713	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:40958713C>A	ENST00000588408.1	+	5	878	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	CNTD1_ENST00000588527.1_Missense_Mutation_p.P118Q|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	201										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGTTTGGTTCCAGCCATGAGG	0.453000													136	72					4.34421e-82	9.50297e-82	1	1	0
USP10	9100	broad.mit.edu	37	16	84778661	84778661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:84778661G>T	ENST00000219473.7	+	4	687	c.574G>T	c.(574-576)Gag>Tag	p.E192*	USP10_ENST00000570191.1_Nonsense_Mutation_p.E196*|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	192					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGTCAGTGCAGAGGATGCAGA	0.502000													7	26					2.32416e-17	3.32993e-17	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122647398	122647398	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:122647398G>T	ENST00000195173.4	-	7	905	c.602C>A	c.(601-603)aCc>aAc	p.T201N	SEMA5B_ENST00000357599.3_Missense_Mutation_p.T201N|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T255N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	201	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AAAGGCATTGGTTCCACACAT	0.607000													10	6					7.03913e-09	8.17339e-09	1	1	0
PLK1	5347	broad.mit.edu	37	16	23691419	23691419	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:23691419G>T	ENST00000300093.4	+	2	534	c.423G>T	c.(421-423)ctG>ctT	p.L141L	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	141	Protein kinase.			L -> P (in Ref. 4; CAA53536).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGGAGCTGCACAAGAGGA	0.587000													19	43					3.85864e-22	6.04068e-22	1	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875685	75875685	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:75875685G>T	ENST00000266659.3	+	2	447	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	82					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATAATACACGGCTGAAGCCAC	0.478000													66	50					3.78398e-24	6.11932e-24	1	1	0
WDR78	79819	broad.mit.edu	37	1	67371051	67371051	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:67371051C>A	ENST00000371026.3	-	2	233	c.178G>T	c.(178-180)Gcc>Tcc	p.A60S	WDR78_ENST00000371022.3_Missense_Mutation_p.A60S|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.A60S|WDR78_ENST00000488333.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	60										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGTTGTGTGGCATTGTTCCTA	0.313000													25	35					0.000117367	0.000124211	1	1	0
FASN	2194	broad.mit.edu	37	17	80049286	80049286	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:80049286T>C	ENST00000306749.2	-	9	1522	c.1304A>G	c.(1303-1305)cAg>cGg	p.Q435R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	435	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGCAGCTTCTGCACGGCCTC	0.706000													7	7					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629798	7629798	+	Missense_Mutation	SNP	C	C	T	rs139251660		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:7629798C>T	ENST00000340209.4	+	3	602	c.305C>T	c.(304-306)cCg>cTg	p.P102L	RBFOX1_ENST00000553186.1_Missense_Mutation_p.P97L|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P132L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P140L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P97L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P117L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P117L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P140L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P97L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P117L			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	97					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.P117L(3)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACGCAGCACCGACGGATGGC	0.522000													23	84					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59834461	59834461	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:59834461C>A	ENST00000278865.3	+	5	462	c.389C>A	c.(388-390)aCa>aAa	p.T130K	MS4A3_ENST00000358152.2_Missense_Mutation_p.T84K|MS4A3_ENST00000534744.1_Missense_Mutation_p.T84K|MS4A3_ENST00000395032.2_Missense_Mutation_p.T7K	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	130						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCCAGTGCTACAATTGCACTA	0.373000													7	38					0.000442599	0.000465394	1	1	0
GRIK1	2897	broad.mit.edu	37	21	31015275	31015275	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:31015275C>A	ENST00000399914.1	-	7	1490	c.969G>T	c.(967-969)ctG>ctT	p.L323L	GRIK1_ENST00000535441.1_Silent_p.L323L|GRIK1_ENST00000399913.1_Silent_p.L323L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Silent_p.L323L|GRIK1_ENST00000399907.1_Silent_p.L323L|GRIK1_ENST00000309434.7_Silent_p.L323L|GRIK1_ENST00000399909.1_Silent_p.L323L|GRIK1_ENST00000389125.3_Silent_p.L323L|GRIK1_ENST00000389124.2_Silent_p.L323L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	323					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCGTACATCAGAGCCGCTT	0.527000													32	23					5.48756e-27	9.24023e-27	1	1	0
GJA8	2703	broad.mit.edu	37	1	147380309	147380309	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:147380309G>T	ENST00000240986.4	+	2	280	c.227G>T	c.(226-228)cGc>cTc	p.R76L	GJA8_ENST00000369235.1_Missense_Mutation_p.R76L	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	76					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCCACATTCGCCTCTGGGTG	0.612000													86	93					1.14904e-54	2.35576e-54	1	1	0
CRB1	23418	broad.mit.edu	37	1	197403858	197403858	+	Silent	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:197403858T>C	ENST00000367397.1	+	5	1866	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	CRB1_ENST00000367400.3_Silent_p.N955N|CRB1_ENST00000544212.1_Silent_p.N436N|CRB1_ENST00000367399.2_Silent_p.N843N|CRB1_ENST00000535699.1_Silent_p.N931N|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	955	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTTTTAATGGACAAAGCG	0.299000													25	106					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467525	103467525	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:103467525C>A	ENST00000358392.2	-	24	2451	c.2133_splice	c.e24-1	p.G712_splice	COL11A1_ENST00000353414.4_Splice_Site_p.G661_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G584_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Splice_Site_p.G700_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	700	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			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)		CCAGGAAGACCCTATTTTAAA	0.338000													41	63					1.30916e-28	2.25877e-28	1	1	0
DZIP1L	199221	broad.mit.edu	37	3	137811270	137811270	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:137811270C>A	ENST00000327532.2	-	5	1187	c.825G>T	c.(823-825)tgG>tgT	p.W275C	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.W275C	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	275						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TAAATTCATCCCAAAATAATT	0.328000													41	50					2.77807e-22	4.37702e-22	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52325718	52325718	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:52325718C>A	ENST00000356297.4	-	15	1996	c.1896G>T	c.(1894-1896)ttG>ttT	p.L632F	PXDNL_ENST00000543296.1_Missense_Mutation_p.L632F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	632					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)				ACTGTGAAAACAAATGTCTTC	0.348000													9	37					1.61879e-10	1.92995e-10	1	1	0
PSG9	5678	broad.mit.edu	37	19	43763037	43763037	+	Silent	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:43763037G>C	ENST00000418820.2	-	3	779	c.681C>G	c.(679-681)cgC>cgG	p.R227R	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.R320R|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Silent_p.R227R			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	227	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGGGTTACTGCGGAGGCCAC	0.493000													24	77					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062824	9062824	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:9062824C>A	ENST00000397910.4	-	3	24825	c.24622G>T	c.(24622-24624)Ggg>Tgg	p.G8208W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8210	Ser-rich.|Thr-rich.				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						GGTGTAGACCCAGGAGGATCT	0.463000													16	24					1.87028e-06	2.07339e-06	1	1	0
ASL	435	broad.mit.edu	37	7	65554161	65554161	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:65554161G>T	ENST00000304874.9	+	12	1019	c.918_splice	c.e12+1	p.R306_splice	ASL_ENST00000395331.3_Splice_Site_p.R306_splice|ASL_ENST00000395332.3_Splice_Site_p.R306_splice|AC068533.7_ENST00000450043.1_Splice_Site_p.A74_splice|ASL_ENST00000380839.4_Splice_Site_p.R280_splice	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	306					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTTTGGGCGGGTGAGCAAG	0.677000													69	55					3.76054e-38	7.08716e-38	1	1	0
OSCAR	126014	broad.mit.edu	37	19	54598537	54598537	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:54598537G>T	ENST00000358375.4	-	5	786	c.741C>A	c.(739-741)gtC>gtA	p.V247V	OSCAR_ENST00000356532.3_Silent_p.V251V|OSCAR_ENST00000351806.4_Silent_p.V236V|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGTCAAAAGTGACCAGCGCGC	0.682000													5	6					0.0293803	0.030055	1	1	0
REST	5978	broad.mit.edu	37	4	57797951	57797951	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:57797951C>T	ENST00000309042.7	+	4	3241	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	976					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATGCTTCCCCCTTCAGCAGTA	0.418000													20	41					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264449	85264449	+	Splice_Site	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:85264449C>G	ENST00000266682.5	-	9	1844	c.1302_splice	c.e9-1	p.A435_splice	SLC6A15_ENST00000309283.7_Splice_Site_p.A143_splice|SLC6A15_ENST00000552192.1_Splice_Site_p.A328_splice	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	435					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCCTGAACAGCCTGCAAAATA	0.403000													38	29					0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139694476	139694476	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:139694476G>A	ENST00000367651.2	-	2	821	c.606C>T	c.(604-606)ccC>ccT	p.P202P	CITED2_ENST00000537332.1_Silent_p.P202P|CITED2_ENST00000536159.1_Silent_p.P202P	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	202					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CCACGGAGGCGGGCATGTTgc	0.672000													34	39					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105774686	105774686	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:105774686C>A	ENST00000393127.2	+	8	1478	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E	GRIA4_ENST00000393125.2_Missense_Mutation_p.D344E|GRIA4_ENST00000282499.5_Missense_Mutation_p.D344E|GRIA4_ENST00000428631.2_Missense_Mutation_p.D344E|GRIA4_ENST00000530497.1_Missense_Mutation_p.D344E|GRIA4_ENST00000525187.1_Missense_Mutation_p.D344E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	344					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGGGAATTGACATGGAGAGGA	0.393000													53	58					1.41408e-17	2.04395e-17	1	1	0
SH3RF3	344558	broad.mit.edu	37	2	110053404	110053404	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:110053404C>A	ENST00000309415.6	+	7	1630	c.1630C>A	c.(1630-1632)Ctg>Atg	p.L544M		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	544							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGGGTCTCCACTGGCCAAAGG	0.632000													37	29					3.54909e-21	5.38407e-21	1	1	0
COQ4	51117	broad.mit.edu	37	9	131095905	131095905	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:131095905A>T	ENST00000300452.3	+	7	1102	c.779A>T	c.(778-780)cAc>cTc	p.H260L	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	260					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CCACCCATGCACGTCCAGGGC	0.652000													22	33					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725613	158725613	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:158725613G>A	ENST00000368144.2	+	1	1104	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACTATCAGAAGAGGGCTGGTT	0.408000													36	61					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646774	47646774	+	Silent	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:47646774A>G	ENST00000398742.2	+	3	220	c.171A>G	c.(169-171)ccA>ccG	p.P57P	GPR111_ENST00000507065.1_Silent_p.P57P|GPR111_ENST00000296862.1_Silent_p.P125P			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTGCCCTCCAGACACTCAGG	0.483000													39	56					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018464	58018464	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:58018464G>T	ENST00000282292.4	+	4	1141	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S333I	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TATAAGTGCAGTGAATGTGGA	0.418000													18	87					1.50039e-11	1.86124e-11	1	1	0
PREX2	80243	broad.mit.edu	37	8	69021748	69021748	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:69021748G>C	ENST00000288368.4	+	25	3313	c.3036G>C	c.(3034-3036)agG>agC	p.R1012S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1012					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGGTCTCAGGTATCTGCTAA	0.498000													19	45					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11675996	11675996	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:11675996G>T	ENST00000423059.3	-	2	1034	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	261						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGAGCAGGTGCTCCAGGGCC	0.577000										HNSCC(18;0.044)			63	41					4.38691e-48	8.77382e-48	1	1	0
TRO	7216	broad.mit.edu	37	X	54956546	54956546	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:54956546G>T	ENST00000173898.7	+	12	3501	c.3389G>T	c.(3388-3390)gGt>gTt	p.G1130V	TRO_ENST00000420798.2_Missense_Mutation_p.G661V|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G733V|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1130	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						ATTGGCTTTGGTGCTGCTCCC	0.587000													25	8					8.24728e-16	1.13836e-15	1	1	0
CHID1	66005	broad.mit.edu	37	11	903090	903090	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:903090C>A	ENST00000449825.1	-	3	489	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L	CHID1_ENST00000429789.2_Missense_Mutation_p.V45L|CHID1_ENST00000336845.5_Missense_Mutation_p.V70L|CHID1_ENST00000436108.2_Missense_Mutation_p.V45L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000454838.2_Missense_Mutation_p.V70L|CHID1_ENST00000323541.7_Missense_Mutation_p.V75L|CHID1_ENST00000323578.8_Missense_Mutation_p.V45L|CHID1_ENST00000528581.1_Missense_Mutation_p.V70L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	45					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CGGTCTTGCACCGGCTTATCT	0.537000													27	24					2.48696e-23	3.99544e-23	1	1	0
DHX30	22907	broad.mit.edu	37	3	47882406	47882406	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:47882406G>C	ENST00000446256.2	+	8	861	c.289G>C	c.(289-291)Gca>Cca	p.A97P	DHX30_ENST00000445061.1_Missense_Mutation_p.A136P|DHX30_ENST00000348968.4_Missense_Mutation_p.A108P|DHX30_ENST00000457607.1_Missense_Mutation_p.A164P	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	136	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTTGTTTGACGCAGCCAAATA	0.577000													7	73					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957907	63957907	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:63957907C>G	ENST00000373789.3	-	12	1686	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	530					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTGTTTTTCCCCAGTTGTCCT	0.403000													25	175					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161026124	161026124	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:161026124T>C	ENST00000447678.1	-	19	3019	c.2899A>G	c.(2899-2901)Atg>Gtg	p.M967V	LPA_ENST00000316300.5_Missense_Mutation_p.M967V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3475	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGGTGTCATAGATGACCAA	0.468000													316	553					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925430	6925430	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:6925430G>T	ENST00000409757.4	+	2	438	c.314G>T	c.(313-315)tGc>tTc	p.C105F	TBC1D14_ENST00000448507.1_Missense_Mutation_p.C105F	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	105						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CAGAGCGCCTGCGCGCTGCCA	0.657000													24	124					1.17739e-12	1.49076e-12	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74878337	74878337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:74878337G>T	ENST00000569840.2	+	3	860	c.286G>T	c.(286-288)Gag>Tag	p.E96*	MGAT5B_ENST00000428789.2_Nonsense_Mutation_p.E107*|MGAT5B_ENST00000301618.4_Nonsense_Mutation_p.E96*|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Nonsense_Mutation_p.E96*	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	96						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACAGCAGTGAGCTGCACCG	0.701000													29	16					1.61788e-16	2.27152e-16	1	1	0
GNE	10020	broad.mit.edu	37	9	36227330	36227330	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:36227330T>C	ENST00000396594.3	-	7	1400	c.1289A>G	c.(1288-1290)gAt>gGt	p.D430G	GNE_ENST00000377902.5_Missense_Mutation_p.D399G|GNE_ENST00000539815.1_Missense_Mutation_p.D399G|GNE_ENST00000543356.2_Missense_Mutation_p.D394G|GNE_ENST00000447283.2_Missense_Mutation_p.D399G|GNE_ENST00000539208.1_Missense_Mutation_p.D289G	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	399	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ATGGTCAATATCTTGAGAGAT	0.418000													19	60					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491805	4491805	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:4491805G>T	ENST00000301284.4	+	6	715	c.651G>T	c.(649-651)agG>agT	p.R217S	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R217S	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		217	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGCCACGGAGGGGCCCTCTGG	0.632000													38	44					3.21987e-24	5.22429e-24	1	1	0
IGHG1	3500	broad.mit.edu	37	14	106204045	106204045	+	RNA	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:106204045C>G	ENST00000390548.2	-	0	1253																											TGAGCATGGCCCATGGCTGGT	0.667000													16	35					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507808	233507808	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:233507808A>G	ENST00000366624.3	+	6	1838	c.1577A>G	c.(1576-1578)cAg>cGg	p.Q526R	MLK4_ENST00000366623.3_Missense_Mutation_p.Q526R	NM_032435.2	NP_115811.2																					ATAACCGTGCAGGCCTCTCCC	0.517000													27	85					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654851	247654851	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:247654851G>T	ENST00000522351.1	+	0	482							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACATCTCTGCCTGCAGCTG	0.612000													30	74					4.11147e-13	5.27388e-13	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038366	75038366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:75038366C>A	ENST00000326665.5	-	14	3246	c.3028G>T	c.(3028-3030)Gag>Tag	p.E1010*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1010	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGGCTGCCCTCCGAAACCTGC	0.537000													48	42					2.43139e-17	3.46332e-17	1	1	0
ACACA	31	broad.mit.edu	37	17	35453958	35453958	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:35453958C>A	ENST00000353139.5	-	54	7345	c.6864G>T	c.(6862-6864)tgG>tgT	p.W2288C	ACACA_ENST00000335166.5_Missense_Mutation_p.W2173C|ACACA_ENST00000394406.2_Missense_Mutation_p.W2251C|ACACA_ENST00000361253.5_Missense_Mutation_p.W377C|ACACA_ENST00000360679.3_Missense_Mutation_p.W2193C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2251					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTCCACAAACCAGCGCCTTA	0.532000													87	65					1.64126e-25	2.72616e-25	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228473958	228473958	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:228473958G>C	ENST00000570156.2	+	39	10545	c.10471G>C	c.(10471-10473)Gtg>Ctg	p.V3491L	OBSCN_ENST00000366707.4_Missense_Mutation_p.V181L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1909L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3062L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3062L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V181L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2524	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCTACCACGTGCTGACCCT	0.662000													18	12					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333888	220333888	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:220333888G>A	ENST00000312358.7	+	13	3634	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1168					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)		CTCGAAGCTGGAGAAGATGCC	0.657000													20	21					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119456314	119456314	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:119456314G>T	ENST00000273390.5	+	11	1523	c.1446G>T	c.(1444-1446)ttG>ttT	p.L482F		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CTCCAACCTTGGAAATGACGT	0.368000													23	46					2.25844e-05	2.43752e-05	1	1	0
OR6A2	8590	broad.mit.edu	37	11	6816294	6816294	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:6816294G>A	ENST00000332601.3	-	1	834	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGACAGAGAGTGGCCCTAGA	0.498000													76	100					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325967	57325967	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:57325967G>T	ENST00000326441.9	-	10	4206	c.3843C>A	c.(3841-3843)ctC>ctA	p.L1281L	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.L1157L|PEG3_ENST00000593695.1_Silent_p.L1155L|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.L1281L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1281					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACATTCAAAGAGTCTCTCTT	0.483000													18	39					2.39187e-15	3.26063e-15	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001610	177001610	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:177001610C>A	ENST00000367654.2	-	3	860	c.847G>T	c.(847-849)Ggg>Tgg	p.G283W	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G283W|ASTN1_ENST00000361833.2_Missense_Mutation_p.G283W|ASTN1_ENST00000367657.3_Missense_Mutation_p.G283W			O14525	ASTN1_HUMAN	astrotactin 1	283					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGTCCATCCCCGACTTTTCA	0.602000													119	140					3.57201e-63	7.71051e-63	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996287	140996287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:140996287G>T	ENST00000285879.4	+	4	3383	c.3097G>T	c.(3097-3099)Gag>Tag	p.E1033*	MAGEC1_ENST00000406005.2_Nonsense_Mutation_p.E100*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1033	MAGE.						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)					TGCTGGGAGGGAGCACTTTGC	0.537000										HNSCC(15;0.026)			45	31					1.4374e-25	2.39567e-25	1	1	0
GAS7	8522	broad.mit.edu	37	17	9828916	9828916	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:9828916C>A	ENST00000396115.1	-	11	1145	c.834_splice	c.e11-1	p.A279_splice	GAS7_ENST00000432992.2_Splice_Site_p.A339_splice|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Splice_Site_p.A199_splice|GAS7_ENST00000542249.1_Splice_Site_p.A284_splice|GAS7_ENST00000585266.1_Splice_Site_p.A275_splice|GAS7_ENST00000579158.1_Splice_Site_p.A291_splice|GAS7_ENST00000437099.2_Splice_Site_p.A275_splice|GAS7_ENST00000323816.4_Splice_Site_p.A275_splice	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	339	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTTTCCGGGCCTGGGGTCCA	0.607000			T	MLL	AML*								39	24					7.90463e-13	1.00604e-12	1	1	0
COL23A1	91522	broad.mit.edu	37	5	177733901	177733901	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:177733901G>T	ENST00000390654.3	-	3	738	c.381C>A	c.(379-381)ggC>ggA	p.G127G	COL23A1_ENST00000407622.1_Silent_p.G100G	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	127	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCAGGCTTGCCGCGCCGTC	0.622000													5	3					0.00116845	0.00122599	1	1	0
FUT9	10690	broad.mit.edu	37	6	96651518	96651518	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:96651518G>A	ENST00000302103.5	+	3	813	c.487G>A	c.(487-489)Gat>Aat	p.D163N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	163					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CCGTGATTCAGATATCCAAGT	0.448000													16	55					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374999	8374999	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:8374999G>A	ENST00000538603.1	-	7	1372	c.814C>T	c.(814-816)Cca>Tca	p.P272S	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P272S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	272							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTGGCGGCTGGTGGGCAGGGC	0.642000													3	45					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9763285	9763285	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:9763285G>T	ENST00000262441.5	+	7	1305	c.792G>T	c.(790-792)caG>caT	p.Q264H	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q84H	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	264					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GCTCAGTCCAGGTTCTCTTGC	0.577000													42	32					1.73933e-33	3.11048e-33	1	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	6					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31332462	31332462	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:31332462C>A	ENST00000542188.1	-	17	2539	c.2226G>T	c.(2224-2226)ctG>ctT	p.L742L	TRPM1_ENST00000397795.2_Silent_p.L703L|TRPM1_ENST00000256552.6_Silent_p.L725L|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	703					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCAGTTTTTCAGCTCGTAGG	0.527000													32	18					6.84511e-11	8.28174e-11	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47338978	47338978	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:47338978G>T	ENST00000505841.1	-	0	816					NR_002788.2																						TCTTGTTTTAGCTTATCCTTA	0.363000													7	38					3.03607e-14	4.00991e-14	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													7	50					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													10	84					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49102508	49102508	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:49102508G>C	ENST00000323090.4	+	6	1273	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	SULT2B1_ENST00000201586.2_Missense_Mutation_p.E315Q|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	315					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		AGACCCGGAGGAGGACGGCAG	0.652000													4	11					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1905416	1905416	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:1905416C>T	ENST00000358771.4	+	5	1246	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	SIRPA_ENST00000356025.3_Missense_Mutation_p.T365I|SIRPA_ENST00000400068.3_Missense_Mutation_p.T365I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	365					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CTAGAGAACACTGGATCTAAT	0.488000													24	22					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39816643	39816643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:39816643G>T	ENST00000564288.1	+	43	11929	c.11152G>T	c.(11152-11154)Gaa>Taa	p.E3718*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.E2158*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E1656*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E3723*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E1656*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E3755*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E1656*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E1656*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3723					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			GGCCCAGAAGGAACTGGAGGA	0.483000													22	32					1.04121e-07	1.19764e-07	1	1	0
EFCAB7	84455	broad.mit.edu	37	1	64022900	64022900	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:64022900G>T	ENST00000371088.4	+	10	1576	c.1330G>T	c.(1330-1332)Gct>Tct	p.A444S	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	444							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGATGAAGATGCTTGGGCTGT	0.313000													24	17					4.74835e-14	6.20452e-14	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51701234	51701234	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:51701234C>A	ENST00000371117.3	-	51	8416	c.8141G>T	c.(8140-8142)cGg>cTg	p.R2714L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2714L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2714					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCCTTCACCCGGAGAATGAC	0.408000													60	80					2.47556e-37	4.64761e-37	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140972574	140972574	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:140972574C>T	ENST00000277549.5	+	36	5109	c.2540C>T	c.(2539-2541)aCg>aTg	p.T847M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1653M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1654M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1652M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1651M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1653M|CACNA1B_ENST00000371365.2_Missense_Mutation_p.T17M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1653					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGAGCGCCACGGGGGAGGCC	0.627000													8	29					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74975631	74975631	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:74975631T>C	ENST00000261978.4	-	23	3814	c.3428A>G	c.(3427-3429)cAg>cGg	p.Q1143R	LTBP2_ENST00000556690.1_Missense_Mutation_p.Q1143R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1143	Cys-rich.|EGF-like 11; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCTGCTCTGGGGGTCTTC	0.617000													48	47					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905156	1905156	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:1905156C>T	ENST00000518288.1	+	30	3997	c.3834C>T	c.(3832-3834)agC>agT	p.S1278S	ARHGEF10_ENST00000520359.1_Silent_p.S1216S|ARHGEF10_ENST00000398564.1_Silent_p.S1279S|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000262112.6_Silent_p.S1250S|ARHGEF10_ENST00000349830.3_Silent_p.S1254S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1279	Ser-rich.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTCAGAAAAGCGACCTGTCCT	0.562000													11	116					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187634	57187634	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:57187634T>A	ENST00000331162.4	-	5	1758	c.1488A>T	c.(1486-1488)gaA>gaT	p.E496D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCTCACATTCTTCACATTTGT	0.388000													20	61					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585327	1585327	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:1585327A>T	ENST00000381297.4	-	2	335	c.125T>A	c.(124-126)cTc>cAc	p.L42H		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	42						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CAGAGAGAAGAGGTTGCCCGG	0.672000			T	CRLF2	"""B-ALL, Downs associated ALL"""								10	33					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177069351	177069351	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:177069351G>T	ENST00000393643.2	+	13	2014	c.1762G>T	c.(1762-1764)Gtg>Ttg	p.V588L	WDR17_ENST00000507824.2_Missense_Mutation_p.V595L|WDR17_ENST00000280190.4_Missense_Mutation_p.V612L|WDR17_ENST00000508596.1_Missense_Mutation_p.V588L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	612										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CACTGCACCTGTGAGAGGATT	0.398000													68	126					5.02048e-33	8.91317e-33	1	1	0
FGF23	8074	broad.mit.edu	37	12	4488571	4488571	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:4488571G>A	ENST00000237837.1	-	1	323	c.178C>T	c.(178-180)Cat>Tat	p.H60Y		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	60					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCATCCACATGGCCATTCTTG	0.592000													136	92					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10959760	10959760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:10959760C>A	ENST00000298232.7	-	7	527	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000361285.4_Nonsense_Mutation_p.E72*|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	72					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)		GCAACATTTTCAGCATCTTCA	0.363000													14	57					9.04412e-07	1.01179e-06	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687916	158687916	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:158687916G>T	ENST00000368146.1	-	1	37	c.38C>A	c.(37-39)tCt>tAt	p.S13Y				Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTCTAGTAGAGCTACCTGT	0.403000													25	22					4.4194e-11	5.38683e-11	1	1	0
UGT3A2	167127	broad.mit.edu	37	5	36049001	36049001	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:36049001G>T	ENST00000282507.3	-	4	934	c.833C>A	c.(832-834)cCa>cAa	p.P278Q	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P244Q|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	278						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGTACTGGTTTAATAGG	0.468000													6	101					5.18039e-06	5.67873e-06	1	1	0
CR1	1378	broad.mit.edu	37	1	207782968	207782968	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:207782968G>T	ENST00000367049.4	+	37	6230	c.6230G>T	c.(6229-6231)gGg>gTg	p.G2077V	CR1_ENST00000367052.1_Missense_Mutation_p.G1627V|CR1_ENST00000367053.1_Missense_Mutation_p.G1627V|CR1_ENST00000367051.1_Missense_Mutation_p.G1627V|CR1_ENST00000400960.2_Missense_Mutation_p.G1627V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1627					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCATGGTAGGGTCCCACACT	0.517000													28	17					3.90053e-15	5.27972e-15	1	1	0
RHBDF2	79651	broad.mit.edu	37	17	74473010	74473010	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:74473010G>T	ENST00000591885.1	-	9	1567	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	RHBDF2_ENST00000313080.4_Missense_Mutation_p.H368Q|RHBDF2_ENST00000389760.4_Missense_Mutation_p.H339Q			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	368					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CGAGGCCGTAGTGCCGCTTCT	0.667000													49	33					2.80097e-13	3.61177e-13	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64554096	64554096	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:64554096C>G	ENST00000498707.1	-	29	4814	c.4472G>C	c.(4471-4473)aGa>aCa	p.R1491T	ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1463T|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1491	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCACTTTCTGTGCCCATG	0.498000													13	37					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104111668	104111668	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:104111668G>T	ENST00000369983.3	+	6	743	c.483G>T	c.(481-483)atG>atT	p.M161I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	161					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGAGATTATGCAGTCTTGCT	0.473000											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	34					2.29764e-31	4.02087e-31	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196740502	196740502	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:196740502C>A	ENST00000312428.6	-	38	6283	c.6183G>T	c.(6181-6183)gaG>gaT	p.E2061D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2061	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCTAAGTAACTCAATGGGAG	0.418000													37	32					2.24893e-16	3.14851e-16	1	1	0
NDST4	64579	broad.mit.edu	37	4	115891588	115891588	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:115891588G>T	ENST00000264363.2	-	4	1897	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	407	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTGCTCACCAGTGCAAATTCC	0.398000													15	31					8.00594e-06	8.71758e-06	1	1	0
FAT4	79633	broad.mit.edu	37	4	126412874	126412874	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:126412874G>T	ENST00000394329.3	+	17	14910	c.14897G>T	c.(14896-14898)gGg>gTg	p.G4966V	FAT4_ENST00000335110.5_Missense_Mutation_p.G3207V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4966					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCAAAGCTGGGACAACTAAA	0.393000													9	17					0.00136819	0.00143251	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84302942	84302942	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:84302942G>A	ENST00000428679.2	-	19	2326	c.1733C>T	c.(1732-1734)cCt>cTt	p.P578L	SNAP91_ENST00000520302.1_Missense_Mutation_p.P576L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P578L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P578L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P578L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P578L|SNAP91_ENST00000195649.6_Missense_Mutation_p.P578L|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	578	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATCTGGCTTAGGCGCTGCAGC	0.408000													3	7					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570136	248570136	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248570136G>T	ENST00000366474.1	+	1	841	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCTCAGTGGAGGGCAG	0.502000													57	61					3.61411e-23	5.74972e-23	1	1	0
MIOS	54468	broad.mit.edu	37	7	7613214	7613214	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:7613214T>C	ENST00000340080.4	+	4	1529	c.1108T>C	c.(1108-1110)Tgt>Cgt	p.C370R	MIOS_ENST00000405785.1_Missense_Mutation_p.C370R	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	370										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGTGGGCTTGTGGTCGTCA	0.383000													34	99					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8181394	8181394	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:8181394C>A	ENST00000402384.3	-	10	1222		c.e10+1		ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000396675.3_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000265577.7_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAAAACTTACTCTTAAAACT	0.303000													10	15					6.40141e-05	6.8041e-05	1	1	0
MS4A15	219995	broad.mit.edu	37	11	60538784	60538784	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:60538784C>A	ENST00000405633.3	+	4	448	c.369C>A	c.(367-369)ctC>ctA	p.L123L	MS4A15_ENST00000337911.4_Silent_p.L30L|MS4A15_ENST00000528170.1_Silent_p.L82L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	123						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCGGATCCCTCTCAGTGGCAG	0.607000													13	57					3.51602e-12	4.42892e-12	1	1	0
CEP250	11190	broad.mit.edu	37	20	34091725	34091725	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:34091725T>C	ENST00000397527.1	+	30	6248	c.5528T>C	c.(5527-5529)cTc>cCc	p.L1843P	CEP250_ENST00000342580.4_Missense_Mutation_p.L1787P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1843	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)			GCAGACGCCCTCCAGGGAGCT	0.602000													9	11					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679878	3679878	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:3679878G>C	ENST00000294600.2	+	7	1245	c.1161G>C	c.(1159-1161)agG>agC	p.R387S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	387	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		cagaggaaagggagctgccgg	0.637000													3	9					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820858	24820858	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:24820858G>A	ENST00000376451.2	+	10	2491	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1026E|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1025E|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G744E|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G744E|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G744E|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1061E|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G981E			Q5T5P2	SKT_HUMAN	KIAA1217	1061					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAGGATCGGGACTCACCACC	0.577000													16	22					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256866	52256866	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:52256866G>T	ENST00000597542.1	-	9	2495	c.1538C>A	c.(1537-1539)cCg>cAg	p.P513Q	TLR9_ENST00000360658.2_Missense_Mutation_p.P489Q|TLR9_ENST00000494383.1_Silent_p.A642A			Q9NR96	TLR9_HUMAN	toll-like receptor 9	489					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAACATCTCCGGCTGCACGGT	0.612000													35	34					1.30015e-28	2.25114e-28	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41061726	41061726	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:41061726G>T	ENST00000399564.4	-	6	1011	c.561C>A	c.(559-561)ttC>ttA	p.F187L		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGAACAGCATGAAGATCTTGT	0.498000													187	72					3.66392e-109	8.08702e-109	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115337178	115337178	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:115337178C>T	ENST00000337530.6	+	2	1114	c.818C>T	c.(817-819)cCc>cTc	p.P273L	KIAA1958_ENST00000374244.3_Missense_Mutation_p.P273L|KIAA1958_ENST00000536272.1_Missense_Mutation_p.P273L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	273										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCTGCATCCCCCTCTGTGATC	0.547000													125	289					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754439	76754439	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:76754439C>A	ENST00000536229.3	+	1	2758	c.2049C>A	c.(2047-2049)acC>acA	p.T683T	SALL3_ENST00000537592.2_Silent_p.T816T|SALL3_ENST00000575389.2_Silent_p.T816T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCGGCCACCGACCCGGCCA	0.642000													22	13					1.55795e-14	2.06882e-14	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321012	64321012	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr13:64321012G>T	ENST00000453638.2	+	1	79	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C																	endometrium(2)|lung(1)|urinary_tract(1)	4						ttatggctatggctatggctc	0.527000													7	9					3.09899e-07	3.52321e-07	1	1	0
ZNF219	51222	broad.mit.edu	37	14	21560931	21560931	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:21560931C>T	ENST00000360947.3	-	3	936	c.525G>A	c.(523-525)tcG>tcA	p.S175S	ZNF219_ENST00000451119.2_Silent_p.S175S|ZNF219_ENST00000421093.2_Silent_p.S175S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	175					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGCGCTCCGCCGAGGTGCGAA	0.667000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	27					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134091	161134091	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:161134091G>T	ENST00000308192.9	+	5	544	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTG	0.478000													79	167					1.06222e-33	1.92063e-33	1	1	0
MTNR1A	4543	broad.mit.edu	37	4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	rs148793802		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507000													36	41					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57101671	57101671	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:57101671G>T	ENST00000261556.6	+	14	1900		c.e14+1		RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_3'UTR|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3			transmembrane protein 260																		GGCAAGCGAGGTGACTATTCT	0.378000													58	186					2.65773e-34	4.82329e-34	1	1	0
ASTN1	460	broad.mit.edu	37	1	176926897	176926897	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:176926897G>C	ENST00000367654.2	-	11	1841	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R602G|ASTN1_ENST00000361833.2_Missense_Mutation_p.R602G|ASTN1_ENST00000367657.3_Missense_Mutation_p.R602G			O14525	ASTN1_HUMAN	astrotactin 1	610	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCAGTCGCGCACCGGCCCA	0.552000													24	31					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99422237	99422237	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:99422237G>C	ENST00000370188.3	-	2	658	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	LPPR5_ENST00000263177.4_Missense_Mutation_p.Q100E	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		100						integral to membrane	hydrolase activity	p.Q100K(1)									GTTTTTTCCTGGTTTTCAAAA	0.328000													35	39					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173247	126173247	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:126173247G>A	ENST00000339582.2	-	9	2997	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.T730I|GRM8_ENST00000444921.2_Missense_Mutation_p.T730I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	730					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGATCTAGTGTCCGCTGCTC	0.493000										HNSCC(24;0.065)			13	35					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360849	83360849	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:83360849C>A	ENST00000262752.2	-	16	1408	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E467D	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	467	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATATTTCAATCTCTTCTGAAG	0.313000													23	24					4.40665e-25	7.24583e-25	1	1	0
TEX11	56159	broad.mit.edu	37	X	69890341	69890341	+	Silent	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:69890341T>A	ENST00000395889.2	-	17	1466	c.1311A>T	c.(1309-1311)ctA>ctT	p.L437L	TEX11_ENST00000374333.2_Silent_p.L422L|TEX11_ENST00000344304.3_Silent_p.L437L|TEX11_ENST00000374320.2_Silent_p.L112L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	437							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTACCATTGTAGGGCATCAG	0.388000													27	9					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775346	24775346	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:24775346C>G	ENST00000221166.5	+	3	2760	c.1978C>G	c.(1978-1980)Cca>Gca	p.P660A	NEFM_ENST00000437366.2_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.P284A|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	660	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCGAAATCACCAGTGGAAGA	0.498000													22	51					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35077020	35077020	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:35077020C>T	ENST00000378643.3	-	6	1216	c.725G>A	c.(724-726)cGg>cAg	p.R242Q		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	242					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAACACAGGCCGTGGACACAG	0.552000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					22	87					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301214	29301214	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:29301214G>T	ENST00000378993.1	+	3	915	c.242G>T	c.(241-243)gGt>gTt	p.G81V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G81V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	81	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAAAGTTCTGGTCCTGGAGAC	0.438000													24	13					7.01153e-11	8.4622e-11	1	1	0
PAEP	5047	broad.mit.edu	37	9	138457261	138457261	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:138457261G>T	ENST00000479141.1	+	5	471	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	PAEP_ENST00000277508.5_Missense_Mutation_p.V143F|PAEP_ENST00000371766.2_Missense_Mutation_p.V143F	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	143					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CACAGCCAGAGTCCTGGTGGA	0.607000													26	41					3.73148e-12	4.68827e-12	1	1	0
LRRN2	10446	broad.mit.edu	37	1	204588190	204588190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:204588190C>A	ENST00000367175.1	-	1	3143	c.931G>T	c.(931-933)Gag>Tag	p.E311*	LRRN2_ENST00000367177.3_Nonsense_Mutation_p.E311*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.E311*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	311					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTGGTCAGCTCGGGGAGGTTC	0.587000													66	63					1.68946e-44	3.32464e-44	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24801401	24801401	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:24801401A>T	ENST00000395799.3	+	6	1567	c.1438A>T	c.(1438-1440)Aca>Tca	p.T480S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T480S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	480	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TAGTAGTAACACAGGGGCCTG	0.453000													20	62					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235896917	235896917	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:235896917A>T	ENST00000389794.3	-	34	8861	c.8687T>A	c.(8686-8688)cTc>cAc	p.L2896H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L2896H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2896					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCTTGGGAGAGAGACACTGC	0.383000													9	79					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82056432	82056432	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:82056432G>T	ENST00000395578.1	-	14	1769	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	PRKG2_ENST00000264399.1_Silent_p.P551P|PRKG2_ENST00000545647.1_Silent_p.P131P|PRKG2_ENST00000418486.2_Silent_p.P522P|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	551	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATTTGGAGGTGGGTTCATCAA	0.388000													18	65					1.85244e-09	2.17152e-09	1	1	0
SPAG16	79582	broad.mit.edu	37	2	214204941	214204941	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:214204941G>T	ENST00000413312.1	+	5	744	c.498G>T	c.(496-498)atG>atT	p.M166I	SPAG16_ENST00000331683.5_Missense_Mutation_p.M197I|SPAG16_ENST00000374309.3_Missense_Mutation_p.M103I|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.M197I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M197I			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	197					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCATCGAATGCATCATAAGC	0.284000													29	16					1.60099e-16	2.25426e-16	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88472452	88472452	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:88472452G>T	ENST00000394480.1	-	17	2424	c.2103C>A	c.(2101-2103)tcC>tcA	p.S701S	NTRK3_ENST00000557856.1_Silent_p.S693S|NTRK3_ENST00000355254.2_Silent_p.S701S|NTRK3_ENST00000542733.2_Silent_p.S603S|NTRK3_ENST00000360948.2_Silent_p.S701S|NTRK3_ENST00000357724.2_Silent_p.S693S|NTRK3_ENST00000558676.1_Silent_p.S693S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	701	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGACATCTCTGGACATGCCGA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			50	48					8.24881e-48	1.64306e-47	1	1	0
CDH20	28316	broad.mit.edu	37	18	59221514	59221514	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:59221514C>T	ENST00000262717.4	+	12	2390	c.1992C>T	c.(1990-1992)cgC>cgT	p.R664R	CDH20_ENST00000536675.2_Silent_p.R664R|CDH20_ENST00000538374.1_Silent_p.R664R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	664					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACATCGTCCGCTACGACGACG	0.642000													118	44					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52602018	52602018	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:52602018G>T	ENST00000395961.3	-	7	1114	c.948C>A	c.(946-948)acC>acA	p.T316T	BCAS1_ENST00000371435.2_Silent_p.T316T|BCAS1_ENST00000371440.3_Silent_p.T361T|BCAS1_ENST00000434986.2_Silent_p.T74T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	316						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGCTGAAGTGGTGGGTGACT	0.413000													79	96					5.76837e-54	1.17282e-53	1	1	0
CYP11B2	1585	broad.mit.edu	37	8	143996477	143996477	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:143996477G>C	ENST00000323110.2	-	3	582	c.580C>G	c.(580-582)Cac>Gac	p.H194D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	194					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATGGTGTAGTGGAAGATGCTG	0.642000									Familial Hyperaldosteronism type I				12	21					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5170484	5170484	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:5170484G>T	ENST00000460006.1	+	12	1512	c.1205_splice	c.e12+1	p.R402_splice	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Splice_Site_p.R282_splice|CDS2_ENST00000535100.1_Splice_Site_p.R172_splice	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	402					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGTTTTATCAGGTATAGTACC	0.428000													32	24					2.20262e-25	3.64623e-25	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77638012	77638012	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:77638012G>A	ENST00000461745.1	+	17	3511	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V871I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V887I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	871					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGCCTGCTGGGTAATTCTGAT	0.403000													43	68					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20839771	20839771	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:20839771G>T	ENST00000261377.6	+	11	1279	c.1070G>T	c.(1069-1071)tGt>tTt	p.C357F	AC004381.6_ENST00000348433.6_Missense_Mutation_p.C357F|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.C357F	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GATATACAGTGTCCAGACAGA	0.373000													28	63					1.8453e-21	2.81681e-21	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762646	53762646	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:53762646C>G	ENST00000341702.3	+	1	1102	c.1018C>G	c.(1018-1020)Ctc>Gtc	p.L340V	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	340					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTATTTAGCTCTCTTCGATAA	0.463000													87	150					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184932078	184932078	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:184932078A>G	ENST00000308497.4	+	3	3522	c.2087A>G	c.(2086-2088)gAg>gGg	p.E696G	STOX2_ENST00000438269.1_Missense_Mutation_p.E696G	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	696					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGAGGAAAGAGATATTTAGC	0.562000													4	23					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121080	79121080	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:79121080G>T	ENST00000370747.4	+	5	809	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	242					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CGGGAAAGATGGCAAATACCT	0.388000													48	52					1.84395e-34	3.3714e-34	1	1	0
KALRN	8997	broad.mit.edu	37	3	124196166	124196166	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:124196166G>T	ENST00000360013.3	+	27	4297	c.4170G>T	c.(4168-4170)gcG>gcT	p.A1390A	KALRN_ENST00000460856.1_Silent_p.A1381A|KALRN_ENST00000240874.3_Silent_p.A1390A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1390	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGAGCATGCGGGCACCTTCT	0.403000													32	58					3.21399e-22	5.04762e-22	1	1	0
INHBA	3624	broad.mit.edu	37	7	41729729	41729729	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:41729729C>A	ENST00000242208.4	-	3	1046	c.800G>T	c.(799-801)gGg>gTg	p.G267V	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.G267V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	267					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tttcccttccccctcctcttc	0.587000										TSP Lung(11;0.080)			12	28					6.40141e-05	6.8041e-05	1	1	0
CASC5	57082	broad.mit.edu	37	15	40933168	40933168	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:40933168G>T	ENST00000346991.5	+	15	6209	c.5819G>T	c.(5818-5820)cGa>cTa	p.R1940L	CASC5_ENST00000399668.2_Missense_Mutation_p.R1914L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1940	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TATGTTTACCGACCCAAGATA	0.383000													36	41					5.37117e-13	6.85384e-13	1	1	0
PDE4D	5144	broad.mit.edu	37	5	58271518	58271518	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:58271518C>A	ENST00000340635.6	-	14	2154	c.1979G>T	c.(1978-1980)tGt>tTt	p.C660F	PDE4D_ENST00000507116.1_Missense_Mutation_p.C596F|PDE4D_ENST00000360047.5_Missense_Mutation_p.C524F|PDE4D_ENST00000317118.8_Missense_Mutation_p.C369F|PDE4D_ENST00000502484.2_Missense_Mutation_p.C599F|PDE4D_ENST00000546160.1_Missense_Mutation_p.C599F|PDE4D_ENST00000358923.6_Missense_Mutation_p.C358F|PDE4D_ENST00000503258.1_Missense_Mutation_p.C530F|PDE4D_ENST00000405755.2_Missense_Mutation_p.C538F	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	660					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GTGCTTGTCACACATGGGGCT	0.502000													33	16					1.22674e-20	1.84388e-20	1	1	0
ELAVL4	1996	broad.mit.edu	37	1	50659564	50659564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:50659564C>A	ENST00000371824.1	+	4	739	c.482C>A	c.(481-483)tCa>tAa	p.S161*	ELAVL4_ENST00000357083.4_Nonsense_Mutation_p.S178*|ELAVL4_ENST00000448907.2_Nonsense_Mutation_p.S164*|ELAVL4_ENST00000371823.4_Nonsense_Mutation_p.S161*|ELAVL4_ENST00000371821.1_Nonsense_Mutation_p.S166*|ELAVL4_ENST00000371819.1_Nonsense_Mutation_p.S166*|ELAVL4_ENST00000371827.1_Nonsense_Mutation_p.S161*			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	161	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATCATCACCTCACGAATCCTG	0.443000													93	111					1.45844e-59	3.10712e-59	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174761	140174761	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140174761A>C	ENST00000526136.1	+	1	212	c.212A>C	c.(211-213)cAc>cCc	p.H71P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.H71P|PCDHA2_ENST00000378132.1_Missense_Mutation_p.H71P|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAAAGACACGGGGACCTT	0.622000													11	89					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779461	150779461	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:150779461C>T	ENST00000392818.3	-	2	547	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	TMUB1_ENST00000482202.1_Missense_Mutation_p.G64R|TMUB1_ENST00000476627.1_Missense_Mutation_p.G64R|TMUB1_ENST00000297533.4_Missense_Mutation_p.G64R|TMUB1_ENST00000462940.1_Missense_Mutation_p.G64R	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	64						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCCTCCCCTCTCATGCTG	0.692000													88	92					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496200	9496200	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:9496200G>T	ENST00000246070.2	+	2	657	c.165G>T	c.(163-165)acG>acT	p.T55T	LAMP5_ENST00000427562.2_Silent_p.T55T	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	55						integral to membrane											AAAATGGGACGACGTGTCTCA	0.448000													35	40					3.43241e-23	5.47845e-23	1	1	0
ZNF568	374900	broad.mit.edu	37	19	37482711	37482711	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:37482711G>T	ENST00000455427.2	+	8	725	c.396G>T	c.(394-396)tgG>tgT	p.W132C		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAGCCCTGGATGGTTAAGA	0.468000													4	8					0.150653	0.153154	1	1	0
LVRN	206338	broad.mit.edu	37	5	115335516	115335516	+	Missense_Mutation	SNP	G	G	A	rs7724126		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:115335516G>A	ENST00000357872.4	+	7	1556	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		478					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TCACGCCCTGGTGACTAGAGC	0.368000													33	24					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64235801	64235801	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:64235801G>C	ENST00000262150.2	-	3	634	c.342C>G	c.(340-342)atC>atG	p.I114M	CDH19_ENST00000540086.1_Missense_Mutation_p.I114M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	114	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGGCTCTTAAGATGTAGAGGG	0.423000													68	32					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142148962	142148962	+	RNA	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:142148962C>A	ENST00000390372.3	-	0	315																											GGGCCGAGTCCCCCAGCAACA	0.502000													141	167					1.74763e-85	3.84009e-85	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58207160	58207160	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr13:58207160C>T	ENST00000377918.3	+	1	506	c.480C>T	c.(478-480)gaC>gaT	p.D160D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	160	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATGACCCCGACGCCGGCGAGA	0.652000													7	17					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671532	151671532	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:151671532C>A	ENST00000402676.2	+	4	2246	c.2006C>A	c.(2005-2007)cCa>cAa	p.P669Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.P564Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.P669Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.P571Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	669					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCGGAAGAACCAAAGCGCAAG	0.498000													13	30					4.93089e-13	6.30845e-13	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47044544	47044544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:47044544G>T	ENST00000450053.3	+	34	5736	c.5557G>T	c.(5557-5559)Gaa>Taa	p.E1853*	NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.E1669*|NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.E132*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1853							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCTCACCTGGAAGCCAGCGC	0.597000													11	12					9.70103e-10	1.14267e-09	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181708314	181708314	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:181708314G>T	ENST00000526775.1	+	24	3752	c.3587G>T	c.(3586-3588)gGg>gTg	p.G1196V	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1215V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G822V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1215V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1166V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1196V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1147V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1215					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						CTGCAGGATGGGTCCTACTTC	0.498000													35	216					1.12205e-10	1.34756e-10	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42092020	42092020	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:42092020G>T	ENST00000457542.2	+	3	400		c.e3-1		MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000507762.1_Splice_Site|MAPKBP1_ENST00000456763.2_Splice_Site|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Splice_Site	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCCTCTAACAGGTGACCTTGG	0.507000													35	26					6.2361e-21	9.40213e-21	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100136836	100136836	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:100136836C>G	ENST00000375202.2	+	49	6096	c.4744C>G	c.(4744-4746)Ccc>Gcc	p.P1582A	CCDC180_ENST00000357054.1_Missense_Mutation_p.P1527A|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.P1582A|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		GATGGAGCCCCCCAAACAGAA	0.517000													7	11					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21153433	21153433	+	Missense_Mutation	SNP	G	G	A	rs150004135		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:21153433G>A	ENST00000255882.6	-	16	2038	c.1952C>T	c.(1951-1953)cCc>cTc	p.P651L	PI4KA_ENST00000572273.1_Missense_Mutation_p.P593L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	593					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACATCGAGGGGGGAGGGTGG	0.572000													9	36					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241714305	241714305	+	Silent	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:241714305A>T	ENST00000366559.4	+	4	584	c.273A>T	c.(271-273)tcA>tcT	p.S91S	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Silent_p.S91S|KMO_ENST00000366558.3_Silent_p.S91S	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	91					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACTCTCTTTCAGGAAAAAAGT	0.398000													168	149					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716071	170716071	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:170716071G>C	ENST00000314251.3	-	10	1364	c.1285C>G	c.(1285-1287)Caa>Gaa	p.Q429E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.Q310E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	429					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CGTGGTCCTTGACTGAAAAAC	0.478000													40	43					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037878	49037878	+	Nonsense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr13:49037878T>A	ENST00000267163.4	+	21	2256	c.2118T>A	c.(2116-2118)tgT>tgA	p.C706*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	706	Domain B.|Pocket; binds T and E1A.		C -> Y (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.M705_S707delMCS(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTATGATGTGTTCCATGTATG	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			37	36					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945414	4945414	+	Silent	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:4945414A>G	ENST00000321961.2	-	1	223	c.156T>C	c.(154-156)tgT>tgC	p.C52C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCATCAGTACAAATGACGT	0.502000													5	58					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40702870	40702870	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:40702870G>T	ENST00000249760.2	+	4	673	c.330G>T	c.(328-330)ctG>ctT	p.L110L	IVD_ENST00000479013.2_Silent_p.L83L|IVD_ENST00000487418.2_Silent_p.L113L|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	110					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		AGCATGTGCTGGTGATGGAGG	0.567000													50	57					1.54043e-34	2.82701e-34	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024512	71024512	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:71024512G>T	ENST00000344526.5	+	3	732	c.543G>T	c.(541-543)gaG>gaT	p.E181D	C4orf40_ENST00000502294.1_Missense_Mutation_p.E181D	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	181	Ala-rich.					extracellular region		p.E181D(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGCTGCAGAGGCACCTGTTG	0.632000													32	47					3.11337e-16	4.32168e-16	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143778	56143778	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:56143778A>T	ENST00000302270.1	+	1	679	c.679A>T	c.(679-681)Agg>Tgg	p.R227W		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGCCATCCTGAGGATGCATTC	0.458000													14	84					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607000													45	422					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485430	100485430	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:100485430G>T	ENST00000388793.4	+	17	2493	c.2273G>T	c.(2272-2274)cGc>cTc	p.R758L	SRRT_ENST00000432932.1_Missense_Mutation_p.R758L|SRRT_ENST00000457580.2_Missense_Mutation_p.R759L|SRRT_ENST00000347433.4_Missense_Mutation_p.R759L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	759					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.R759H(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GATGCTAAGCGCCCAGCTCTG	0.502000													55	101					1.55545e-33	2.80209e-33	1	1	0
TMEM59L	25789	broad.mit.edu	37	19	18727858	18727858	+	Missense_Mutation	SNP	C	C	T	rs150479603	byFrequency	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:18727858C>T	ENST00000600490.1	+	6	795	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	TMEM59L_ENST00000262817.3_Missense_Mutation_p.R204C			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	204						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCGTCTGCAGCGCGTGGAGGT	0.637000													25	93					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960201	117960201	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:117960201C>T	ENST00000310164.2	+	4	1501	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GAATAACGGTCCTGGGGAGAT	0.517000													6	72					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671617	160671617	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:160671617C>G	ENST00000366952.1	-	5	2054	c.573G>C	c.(571-573)ctG>ctC	p.L191L	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.L212L			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	212					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTTTGCTGACCAGTCCTTGGA	0.458000													8	128					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589931	140589931	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140589931C>A	ENST00000239450.2	+	1	1641	c.1452C>A	c.(1450-1452)gcC>gcA	p.A484A	PCDHB12_ENST00000541609.1_Silent_p.A147A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		484	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCAACT	0.647000													146	77					2.03755e-62	4.37894e-62	1	1	0
FLNC	2318	broad.mit.edu	37	7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612000													19	125					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139768066	139768066	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:139768066C>G	ENST00000303045.6	-	19	2355	c.1909G>C	c.(1909-1911)Gtg>Ctg	p.V637L	COL22A1_ENST00000435777.1_Missense_Mutation_p.V637L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	637	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGGTCCCACGTCACCCTGC	0.572000										HNSCC(7;0.00092)			15	170					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020563	46020563	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:46020563C>T	ENST00000380102.2	+	1	67	c.42C>T	c.(40-42)agC>agT	p.S14S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	14						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGACCTGAGCTACGGCAGCC	0.627000													25	22					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117266822	117266822	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:117266822G>T	ENST00000278935.3	+	25	3289	c.3142G>T	c.(3142-3144)Gtt>Ttt	p.V1048F	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1048					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAAGTGACAGTTGAGGAAAA	0.552000													38	183					2.54651e-27	4.31761e-27	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101909023	101909023	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:101909023G>T	ENST00000537097.1	+	6	995	c.182G>T	c.(181-183)gGa>gTa	p.G61V	GPRASP1_ENST00000361600.5_Missense_Mutation_p.G61V|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G61V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G61V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	61						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTATGCCTGGAGCAAGCACC	0.522000													106	42					2.36156e-58	4.98777e-58	1	1	0
FLNC	2318	broad.mit.edu	37	7	128486942	128486942	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:128486942G>T	ENST00000325888.8	+	24	4532	c.4271G>T	c.(4270-4272)gGg>gTg	p.G1424V	FLNC_ENST00000346177.6_Missense_Mutation_p.G1424V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1424					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCACCTTCGGGGGGCGGCCC	0.592000													18	93					1.1804e-14	1.57172e-14	1	1	0
ELN	2006	broad.mit.edu	37	7	73477534	73477534	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:73477534G>T	ENST00000252034.7	+	27	2237	c.1838G>T	c.(1837-1839)gGc>gTc	p.G613V	ELN_ENST00000380584.4_Missense_Mutation_p.G565V|ELN_ENST00000358929.4_Missense_Mutation_p.G681V|ELN_ENST00000429192.1_Missense_Mutation_p.G599V|ELN_ENST00000414324.1_Missense_Mutation_p.G589V|ELN_ENST00000380553.4_Missense_Mutation_p.G477V|ELN_ENST00000380562.4_Missense_Mutation_p.G619V|ELN_ENST00000380575.4_Missense_Mutation_p.G584V|ELN_ENST00000380576.5_Missense_Mutation_p.G594V|ELN_ENST00000458204.1_Missense_Mutation_p.G603V|ELN_ENST00000357036.5_Missense_Mutation_p.G618V|ELN_ENST00000445912.1_Missense_Mutation_p.G613V|ELN_ENST00000320399.6_Missense_Mutation_p.G646V|ELN_ENST00000320492.7_Missense_Mutation_p.G532V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	675	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGGAGTAGGCATCCCAGGC	0.607000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						11	33					6.81908e-15	9.12937e-15	1	1	0
DUSP19	142679	broad.mit.edu	37	2	183943749	183943749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:183943749A>T	ENST00000354221.4	+	1	263	c.88A>T	c.(88-90)Aaa>Taa	p.K30*	DUSP19_ENST00000342619.6_Nonsense_Mutation_p.K30*|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	30					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AACTGGAAAGAAAATTATAGA	0.453000													21	33					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841578	8841578	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:8841578T>G	ENST00000324060.2	+	1	263	c.188T>G	c.(187-189)cTc>cGc	p.L63R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTTCCTGCTCAGCCAGCTC	0.552000													13	126					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173351781	173351781	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:173351781G>A	ENST00000375221.2	+	15	2205	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	ITGA6_ENST00000409080.1_Missense_Mutation_p.D629N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D510N|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.D668N|ITGA6_ENST00000343713.4_Missense_Mutation_p.D624N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D629N			P23229	ITA6_HUMAN	integrin, alpha 6	668					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGTGGAGACGACAATGTATG	0.368000													7	33					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	557439	557439	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:557439G>A	ENST00000329451.3	-	7	735	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	225										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAGGTTGGGATACCGGCGG	0.612000													7	6					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212773	28212773	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:28212773G>T	ENST00000284984.2	-	5	1941	c.1487C>A	c.(1486-1488)tCc>tAc	p.S496Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	496	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCAGTGTTTGGAGTCCTCCCC	0.582000													14	10					4.3838e-07	4.96088e-07	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457590	110457590	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:110457590C>G	ENST00000378402.5	+	38	5596	c.5492C>G	c.(5491-5493)cCc>cGc	p.P1831R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1831	IPT/TIG 11.				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)			GTCAGCAGCCCCCCAGTAGCA	0.498000										HNSCC(38;0.096)			50	39					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570045	53570045	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:53570045C>T	ENST00000025008.5	-	15	2867	c.2344G>A	c.(2344-2346)Gta>Ata	p.V782I	RB1CC1_ENST00000539297.1_Missense_Mutation_p.V782I|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V782I|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	782					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTACCACATACATTTGTATCC	0.388000													28	72					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55743285	55743285	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:55743285C>G	ENST00000412770.2	-	19	2757	c.2191G>C	c.(2191-2193)Ggg>Cgg	p.G731R	PPP6R1_ENST00000587283.1_Missense_Mutation_p.G731R	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	731	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TCTTCCTCCCCGGAGACTCGG	0.697000													8	11					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88983565	88983565	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:88983565T>A	ENST00000556564.1	-	3	505	c.221A>T	c.(220-222)cAg>cTg	p.Q74L	PTPN21_ENST00000328736.3_Missense_Mutation_p.Q74L|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	74	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACCGGCGCTGATTTTGCTT	0.418000													29	116					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307813	92307813	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:92307813C>T	ENST00000276609.3	+	4	598	c.359C>T	c.(358-360)cCt>cTt	p.P120L	SLC26A7_ENST00000309536.2_Missense_Mutation_p.P120L|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P120L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	120						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CGGATTGTCCCTCAGAACATG	0.463000													13	190					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68992769	68992769	+	Silent	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:68992769T>C	ENST00000288368.4	+	16	2011	c.1734T>C	c.(1732-1734)ctT>ctC	p.L578L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	578					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACATCGACTTATGAAACATG	0.313000													7	28					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36227307	36227307	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:36227307G>A	ENST00000396594.3	-	7	1423	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	GNE_ENST00000377902.5_Silent_p.L407L|GNE_ENST00000539815.1_Silent_p.L407L|GNE_ENST00000543356.2_Silent_p.L402L|GNE_ENST00000447283.2_Silent_p.L407L|GNE_ENST00000539208.1_Silent_p.L297L	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	407	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AAGGCACTTAGAGTTTCAAGA	0.408000													18	75					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54262662	54262662	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:54262662C>A	ENST00000371429.3	-	12	1976	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S	NDC1_ENST00000537333.1_Missense_Mutation_p.A125S|NDC1_ENST00000234725.8_Missense_Mutation_p.A345S|NDC1_ENST00000540001.1_Missense_Mutation_p.A460S	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		AAAATTCCAGCCATCCGATTC	0.423000													58	50					3.00063e-23	4.80492e-23	1	1	0
TSHR	7253	broad.mit.edu	37	14	81562992	81562992	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:81562992C>A	ENST00000541158.2	+	8	877	c.555C>A	c.(553-555)taC>taA	p.Y185*	TSHR_ENST00000554263.1_Nonsense_Mutation_p.Y185*|TSHR_ENST00000298171.2_Nonsense_Mutation_p.Y185*|TSHR_ENST00000554435.1_Nonsense_Mutation_p.Y185*|TSHR_ENST00000342443.6_Nonsense_Mutation_p.Y185*			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	185					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGAAGCTGTACAACAATGGCT	0.443000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						29	96					1.49673e-21	2.30629e-21	1	1	0
FBXW9	84261	broad.mit.edu	37	19	12807321	12807321	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:12807321G>C	ENST00000380339.3	-	1	111	c.75C>G	c.(73-75)gaC>gaG	p.D25E	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.D25E|FBXW9_ENST00000393261.3_Missense_Mutation_p.D25E			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	25							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCGCGTCTGGGTCTGTCTCTG	0.682000													29	50					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36439068	36439068	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:36439068A>T	ENST00000373191.4	+	5	963	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	AGO3_ENST00000324350.5_Missense_Mutation_p.Q205L|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.Q205L	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GGATTCCATCAGTCTGTTCGG	0.473000													263	236					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55972008	55972008	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:55972008G>A	ENST00000263923.4	-	12	1931	c.1636C>T	c.(1636-1638)Cac>Tac	p.H546Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	546	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTCACGTGGAAGGAGATC	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			186	320					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166090	140166090	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140166090G>T	ENST00000504120.2	+	1	215	c.215G>T	c.(214-216)aGg>aTg	p.R72M	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R72M|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R72M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACACACAGGGACCTTCTG	0.597000													114	45					1.61085e-67	3.49255e-67	1	1	0
DTX3L	151636	broad.mit.edu	37	3	122284747	122284747	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:122284747G>A	ENST00000296161.4	+	2	418	c.229G>A	c.(229-231)Gtt>Att	p.V77I	DTX3L_ENST00000383661.3_Missense_Mutation_p.V77I	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	77					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCAAATACTTGTTGACGAAAA	0.388000													30	37					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1959716	1959716	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:1959716G>T	ENST00000381558.1	+	15	1026	c.747G>T	c.(745-747)tgG>tgT	p.W249C	TNNT3_ENST00000381548.3_Missense_Mutation_p.W259C|TNNT3_ENST00000278317.6_Missense_Mutation_p.W257C|TNNT3_ENST00000360603.3_Missense_Mutation_p.W251C|TNNT3_ENST00000397301.1_Missense_Mutation_p.W268C|TNNT3_ENST00000397304.2_Missense_Mutation_p.W238C|TNNT3_ENST00000446240.1_Missense_Mutation_p.W238C|TNNT3_ENST00000381589.3_Missense_Mutation_p.W255C|TNNT3_ENST00000381549.3_Missense_Mutation_p.W249C|TNNT3_ENST00000381561.4_Missense_Mutation_p.W260C|TNNT3_ENST00000381579.3_Missense_Mutation_p.W249C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	268					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCGGGCGCTGGAAGTAGAGAG	0.647000													9	40					7.48243e-07	8.42848e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414134	105414134	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:105414134G>A	ENST00000333244.5	-	7	7773	c.7654C>T	c.(7654-7656)Cca>Tca	p.P2552S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2552						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)			GGGCCCTCTGGGAGTTTCACG	0.637000													83	569					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352529	20352529	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:20352529C>A	ENST00000396134.2	-	8	1683	c.1560G>T	c.(1558-1560)gtG>gtT	p.V520V	UMOD_ENST00000570689.1_Silent_p.V487V|UMOD_ENST00000424589.1_Silent_p.V520V|UMOD_ENST00000302509.4_Silent_p.V487V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Silent_p.V487V|UMOD_ENST00000396138.4_Silent_p.V536V	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	487	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACATGGTGCCCACGTAGAGAA	0.587000													16	41					3.41278e-10	4.03928e-10	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139697475	139697475	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:139697475G>T	ENST00000303045.6	-	38	3389	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P981P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	981	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCTTTTCCGGGTGGCCCAG	0.557000										HNSCC(7;0.00092)			18	114					3.5997e-14	4.71618e-14	1	1	0
NR1H2	7376	broad.mit.edu	37	19	50885780	50885780	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:50885780C>G	ENST00000542413.1	+	14	1924	c.497C>G	c.(496-498)tCg>tGg	p.S166W	NR1H2_ENST00000593926.1_Missense_Mutation_p.S435W|NR1H2_ENST00000253727.5_Missense_Mutation_p.S435W|NR1H2_ENST00000598168.1_Missense_Mutation_p.S405W|NR1H2_ENST00000599105.1_Missense_Mutation_p.S391W|NR1H2_ENST00000411902.2_Missense_Mutation_p.S338W			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	435					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTGTGCACTCGGAGCAGGTC	0.672000													4	6					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558085	41558085	+	Splice_Site	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:41558085G>C	ENST00000373060.1	+	12	1892	c.1434_splice	c.e12+1	p.Q478_splice	FOXP4_ENST00000373063.3_Splice_Site_p.Q465_splice|FOXP4_ENST00000409208.1_Splice_Site_p.Q466_splice|FOXP4_ENST00000307972.4_Splice_Site_p.Q478_splice|FOXP4_ENST00000373057.3_Splice_Site_p.Q476_splice	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	478					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCATCCGCCAGGTGAGCAGGG	0.657000													22	114					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097555	11097555	+	RNA	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:11097555C>A	ENST00000470054.1	-	0	314									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)		CAGAGCTGTGCCATCTTcagg	0.532000													5	52					0.0293803	0.030055	1	1	0
FPR1	2357	broad.mit.edu	37	19	52249355	52249355	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:52249355G>T	ENST00000595042.1	-	3	1034	c.893C>A	c.(892-894)cCc>cAc	p.P298H	FPR1_ENST00000304748.4_Missense_Mutation_p.P298H	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	298					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATAGAGCATGGGGTTGAGGCA	0.547000													23	39					5.61819e-17	7.93346e-17	1	1	0
DFFB	1677	broad.mit.edu	37	1	3786208	3786208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:3786208G>T	ENST00000378209.3	+	5	873	c.550G>T	c.(550-552)Gag>Tag	p.E184*	DFFB_ENST00000338895.3_Nonsense_Mutation_p.E184*	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	184					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGAGGCTCAGGAGGAATTCCT	0.647000													32	29					3.33393e-15	4.52528e-15	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313975	54313975	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:54313975C>A	ENST00000324134.6	-	3	1106	c.938G>T	c.(937-939)tGc>tTc	p.C313F	NLRP12_ENST00000391772.1_Missense_Mutation_p.C313F|NLRP12_ENST00000391775.3_Missense_Mutation_p.C313F|NLRP12_ENST00000345770.5_Missense_Mutation_p.C313F|NLRP12_ENST00000351894.4_Missense_Mutation_p.C313F|NLRP12_ENST00000535162.1_Missense_Mutation_p.C313F|NLRP12_ENST00000354278.3_Missense_Mutation_p.C313F|NLRP12_ENST00000391773.1_Missense_Mutation_p.C313F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	313	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCTCCCAGCAGAGGCACCA	0.572000													5	27					3.59834e-05	3.86663e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62302648	62302648	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:62302648C>A	ENST00000378024.4	-	4	443	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	AHNAK_ENST00000530124.1_Missense_Mutation_p.G57C|AHNAK_ENST00000257247.7_Missense_Mutation_p.G57C	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	57	PDZ.				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)				ATGGTGGCACCCACAATCTGG	0.607000													31	28					4.65686e-17	6.59498e-17	1	1	0
OR11H4	390442	broad.mit.edu	37	14	20711185	20711185	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:20711185C>A	ENST00000315409.2	+	1	288	c.235C>A	c.(235-237)Ctt>Att	p.L79I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTTTGCCTTCCTTGAGATCTG	0.468000													93	468					4.21061e-56	8.74236e-56	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6662397	6662397	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:6662397G>T	ENST00000299441.3	-	2	859	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	150	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTACCTGCAGGGCAGCCCGA	0.597000													12	23					2.80697e-09	3.2748e-09	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128303	147128303	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:147128303C>A	ENST00000282928.4	+	1	1133	c.404C>A	c.(403-405)aCg>aAg	p.T135K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	135					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACGGCCACACGGACGCCGCG	0.716000													5	10					0.0215528	0.0221402	1	1	0
MS4A13	503497	broad.mit.edu	37	11	60296933	60296933	+	Splice_Site	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:60296933G>A	ENST00000378186.2	+	6	725	c.402_splice	c.e6+1	p.L134_splice	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Splice_Site_p.L94_splice|MS4A13_ENST00000437058.2_Splice_Site_p.L75_splice	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	134						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GTTCCAATTTGGTAAGTGTTT	0.348000													37	39					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034908	107034908	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:107034908G>T	ENST00000390626.2	-	0	230																											CCGGGCATCTGGCGCACCCAG	0.567000													9	47					1.58986e-06	1.76652e-06	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28618330	28618330	+	Missense_Mutation	SNP	C	C	A	rs1042005		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:28618330C>A	ENST00000395609.1	-	7	1199	c.441G>T	c.(439-441)aaG>aaT	p.K147N	SULT1A1_ENST00000395607.1_Missense_Mutation_p.K147N|SULT1A1_ENST00000314752.7_Missense_Mutation_p.K147N|SULT1A1_ENST00000569554.1_Missense_Mutation_p.K147N|SULT1A1_ENST00000350842.4_Missense_Mutation_p.K69N			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	147					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CAGGGTGCACCTTGGCCATGT	0.567000													47	86					1.87854e-15	2.57119e-15	1	1	0
MYLPF	29895	broad.mit.edu	37	16	30387538	30387538	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:30387538A>G	ENST00000322861.7	+	3	250	c.169A>G	c.(169-171)Atg>Gtg	p.M57V		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	57	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CTTCGCAGCCATGGGTGAGCC	0.587000													21	44					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967518	4967518	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:4967518G>T	ENST00000380373.2	-	1	838	c.813C>A	c.(811-813)ccC>ccA	p.P271P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTAATGAGGGGAGAGACAT	0.448000													22	167					1.04121e-07	1.19764e-07	1	1	0
FAM151B	167555	broad.mit.edu	37	5	79797631	79797631	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:79797631C>A	ENST00000282226.4	+	2	201	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	16										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGAAAATATACTGGAATATTT	0.338000													89	78					6.21867e-57	1.3022e-56	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205034377	205034377	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:205034377G>A	ENST00000331830.4	+	13	1966	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	561	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGCACTACCGGAGAACTAAT	0.577000													7	195					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81670444	81670444	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:81670444C>G	ENST00000553612.1	-	3	540	c.137G>C	c.(136-138)tGg>tCg	p.W46S	GTF2A1_ENST00000434192.2_Missense_Mutation_p.W7S	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	46					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TTTGTTTTCCCATAACTAAGG	0.368000													55	54					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209790826	209790826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:209790826G>A	ENST00000391911.1	-	20	3546	c.3157C>T	c.(3157-3159)Cag>Tag	p.Q1053*	LAMB3_ENST00000356082.4_Nonsense_Mutation_p.Q1053*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q1053*	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1053	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.Q1053*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCTGCCCCCTGCTGCCGGGCT	0.617000													19	222					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216908	98216908	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:98216908C>G	ENST00000427338.1	+	1	461	c.384C>G	c.(382-384)aaC>aaG	p.N128K	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCATCTGCAACCCACTGCAGT	0.473000													24	30					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712788	129712788	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:129712788G>T	ENST00000421865.2	+	36	5273	c.5224G>T	c.(5224-5226)Gat>Tat	p.D1742Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1742	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGCTGAAGATGAGTTGGT	0.333000													25	34					1.88708e-17	2.71962e-17	1	1	0
MED12L	116931	broad.mit.edu	37	3	151127030	151127030	+	Splice_Site	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:151127030G>T	ENST00000474524.1	+	38	5753		c.e38-1		MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTTTTCCAGGGCCAGCCGG	0.512000													56	89					1.49723e-40	2.86579e-40	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558509	140558509	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140558509G>T	ENST00000239444.2	+	1	1139	c.894G>T	c.(892-894)ttG>ttT	p.L298F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		298	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGATTTCTTGACAGGAGAAA	0.398000													50	93					2.0833e-19	3.07475e-19	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37185083	37185083	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:37185083C>T	ENST00000274258.7	-	25	4518	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1430K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1430K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1430										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATATTCACTTCAAAAGAGCCT	0.438000													39	12					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982821	123982821	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:123982821C>A	ENST00000306315.5	-	4	3691	c.3256G>T	c.(3256-3258)Ggg>Tgg	p.G1086W	ZNF608_ENST00000504926.1_Missense_Mutation_p.G659W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1086						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATATAGAGCCCATATGCATAC	0.502000													14	18					1.5739e-10	1.8856e-10	1	1	0
MYH7	4625	broad.mit.edu	37	14	23886862	23886862	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:23886862C>A	ENST00000355349.3	-	31	4365	c.4203G>T	c.(4201-4203)gaG>gaT	p.E1401D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1401					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCACGGCCTCCTCAGCTTCCT	0.607000													26	135					3.1745e-13	4.08269e-13	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175704	51175704	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:51175704G>T	ENST00000440970.1	-	2	569	c.138C>A	c.(136-138)agC>agA	p.S46R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S143R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	143					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)			TACTGCTGTGGCTGCCGCTGG	0.632000													7	5					1.06961e-07	1.22456e-07	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248262747	248262747	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248262747A>T	ENST00000366478.2	+	3	407	c.70A>T	c.(70-72)Ata>Tta	p.I24L	OR2L13_ENST00000358120.2_Missense_Mutation_p.I24L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCAAACTGGAATATTTCTCTT	0.438000													47	179					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70935688	70935688	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:70935688C>T	ENST00000357250.6	-	37	2686	c.2528G>A	c.(2527-2529)cGt>cAt	p.R843H	COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	843	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAGGGCCACGCTCCCCCTT	0.438000													21	54					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104160	62104160	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:62104160C>A	ENST00000551449.1	-	3	323	c.145G>T	c.(145-147)Ggc>Tgc	p.G49C	FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGTCATCAGCCTTGAGGATCA	0.363000													77	66					6.21867e-57	1.3022e-56	1	1	0
BVES	11149	broad.mit.edu	37	6	105548996	105548996	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:105548996G>A	ENST00000314641.5	-	8	1267	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	BVES_ENST00000336775.5_Missense_Mutation_p.P351S|BVES_ENST00000446408.2_Missense_Mutation_p.P351S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	351					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AATGTATTTGGAGATGCCGGT	0.458000													27	52					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038921	31038921	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:31038921G>A	ENST00000355537.3	+	4	2542	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATACCACTTAGAGCGACACCA	0.502000													31	64					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49803073	49803073	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:49803073G>T	ENST00000335847.4	-	8	807	c.706C>A	c.(706-708)Cta>Ata	p.L236I	CRISP1_ENST00000505118.1_Missense_Mutation_p.L236I|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000355791.2_Missense_Mutation_p.L236I|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	236					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTACAGAATAGGATAGTTGTT	0.393000													48	136					3.31993e-32	5.83069e-32	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49669611	49669611	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:49669611C>A	ENST00000561648.1	-	4	3505	c.3452G>T	c.(3451-3453)aGt>aTt	p.S1151I	ZNF423_ENST00000262383.2_Missense_Mutation_p.S1151I|ZNF423_ENST00000567169.1_Missense_Mutation_p.S1034I|ZNF423_ENST00000562871.1_Missense_Mutation_p.S1091I|ZNF423_ENST00000562520.1_Missense_Mutation_p.S1091I|ZNF423_ENST00000563137.2_Missense_Mutation_p.S1091I|ZNF423_ENST00000535559.1_Missense_Mutation_p.S1034I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1151					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCGGGGCCCACTGGTCTCCGG	0.657000													50	48					1.92745e-42	3.71831e-42	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157179	26157179	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:26157179G>T	ENST00000325250.1	+	2	264	c.77G>T	c.(76-78)gGa>gTa	p.G26V		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	26							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGGATCTGGGAGCTACGCAG	0.552000													15	7					2.94398e-08	3.40224e-08	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22181464	22181464	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:22181464G>T	ENST00000374695.3	-	48	6089	c.6010C>A	c.(6010-6012)Cgc>Agc	p.R2004S	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2004	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGTCTGTGCGCTCTGACCGG	0.662000													38	33					8.00217e-19	1.17047e-18	1	1	0
FBXL17	64839	broad.mit.edu	37	5	107700563	107700563	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:107700563T>C	ENST00000542267.1	-	3	1656	c.1250A>G	c.(1249-1251)tAt>tGt	p.Y417C	FBXL17_ENST00000496714.1_Missense_Mutation_p.Y19C|FBXL17_ENST00000359660.5_Missense_Mutation_p.Y19C	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	417										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTAGGCTGTATACCTAAGAAG	0.393000													56	41					0	0	1	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91578423	91578423	+	RNA	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:91578423C>T	ENST00000557804.1	+	0	741																											TCACGTGCCCCAGGTATGCTT	0.572000													12	13					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460384	48460384	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:48460384C>A	ENST00000358536.4	-	13	3166	c.2897G>T	c.(2896-2898)cGg>cTg	p.R966L	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R783L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R966L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R783L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	966					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACTCGACCCGGGCCTCAAC	0.632000													6	60					3.09899e-07	3.52321e-07	1	1	0
JRK	8629	broad.mit.edu	37	8	143747263	143747263	+	RNA	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:143747263T>A	ENST00000507178.2	-	0	547									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cagcgccttgttggagtccga	0.647000													6	49					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39412260	39412260	+	Nonsense_Mutation	SNP	C	C	A	rs34871363		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:39412260C>A	ENST00000599996.1	-	8	648	c.649G>T	c.(649-651)Gga>Tga	p.G217*	SARS2_ENST00000221431.6_Missense_Mutation_p.K147N|SARS2_ENST00000600042.1_Intron|SARS2_ENST00000594171.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.K147N|SARS2_ENST00000448145.2_Missense_Mutation_p.K147N																							GAACAAGCTCCTTCCGGATCT	0.657000													22	30					3.73988e-18	5.43781e-18	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37719069	37719069	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:37719069G>T	ENST00000539465.1	+	6	1005	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_5'UTR|FRMPD1_ENST00000541302.1_Missense_Mutation_p.V7F|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V138F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	138						cytoskeleton|cytosol|plasma membrane				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)		TTTTCAGGGAGTCCCTAAATC	0.433000													24	51					4.22769e-11	5.16601e-11	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197953451	197953451	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:197953451C>A	ENST00000328737.2	-	12	1232	c.1156G>T	c.(1156-1158)Gct>Tct	p.A386S	ANKRD44_ENST00000409153.1_Missense_Mutation_p.A411S|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A339S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A386S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A403S|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A386S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	411							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGCAGCAGCATGAAGGCAC	0.388000													47	34					5.82089e-37	1.08864e-36	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531840	50531840	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:50531840C>A	ENST00000374144.3	+	3	1538	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	C10orf71_ENST00000323868.4_Missense_Mutation_p.P417H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	417										endometrium(1)	1						AAACACAACCCCCAGGAACAG	0.443000													15	84					3.41278e-10	4.03928e-10	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141739825	141739825	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:141739825G>C	ENST00000389484.3	-	18	3762	c.2791C>G	c.(2791-2793)Cag>Gag	p.Q931E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	931	LDL-receptor class A 5.				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)		CAAGAAAACTGGTCTACCTGG	0.408000										TSP Lung(27;0.18)			38	26					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314712	79314712	+	Missense_Mutation	SNP	C	C	A	rs139308868		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:79314712C>A	ENST00000305089.3	-	2	107	c.27G>T	c.(25-27)atG>atT	p.M9I		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	9					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGGAGATCAGCATGAAGAACG	0.493000													35	21					1.5731e-28	2.70463e-28	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													6	76					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530858	140530858	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140530858C>A	ENST00000231136.1	+	1	1020	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D204E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		340	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGAATGACAATGCCCCTG	0.473000													38	16					3.09479e-21	4.70946e-21	1	1	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483000													3	71					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128850628	128850628	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:128850628G>A	ENST00000310343.9	-	17	1753	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P236L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P236L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P511L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	585					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						GAGGGACTTGGGCCTTGATAG	0.448000													22	84					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151412075	151412075	+	Missense_Mutation	SNP	T	T	A	rs143949228		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:151412075T>A	ENST00000535741.1	-	41	6916	c.6443A>T	c.(6442-6444)aAc>aTc	p.N2148I	LRBA_ENST00000357115.3_Missense_Mutation_p.N2159I|LRBA_ENST00000510413.1_Missense_Mutation_p.N2148I|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.N2148I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2159						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTACCTCTGTTTGCCATAAA	0.363000													21	55					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059622	11059622	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:11059622G>T	ENST00000287766.4	+	4	753	c.332G>T	c.(331-333)gGg>gTg	p.G111V	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	111					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACCTCCATCGGGGGGCTAGGG	0.607000													71	99					3.61922e-38	6.84718e-38	1	1	0
CRLF2	64109	broad.mit.edu	37	X	1321391	1321391	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:1321391G>T	ENST00000381567.3	-	4	363	c.364C>A	c.(364-366)Ccg>Acg	p.P122T	CRLF2_ENST00000381566.1_Missense_Mutation_p.P122T|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				ACGTGCTTCGGGGAACTGGGT	0.537000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								61	104					4.01556e-35	7.425e-35	1	1	0
STRN	6801	broad.mit.edu	37	2	37126778	37126778	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:37126778G>A	ENST00000263918.4	-	6	691	c.683C>T	c.(682-684)gCc>gTc	p.A228V	STRN_ENST00000379213.2_Missense_Mutation_p.A216V	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	228					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CAGCACGGAGGCAGAATCTGT	0.358000													13	8					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683198	87683198	+	Missense_Mutation	SNP	G	G	T	rs139207764	byFrequency	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:87683198G>T	ENST00000320005.5	-	4	514	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156			S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTCGGGTGAGGAGAGATCTCC	0.473000													61	348					2.92363e-43	5.70749e-43	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588554	20588554	+	RNA	SNP	C	C	G	rs112526901	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:20588554C>G	ENST00000428453.1	-	0	4196																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTGGAAAGCGGTTGCAGAA	0.473000													3	40					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062775	46062775	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:46062775C>G	ENST00000309285.3	-	2	1021	c.665G>C	c.(664-666)cGc>cCc	p.R222P	XCR1_ENST00000542109.1_Missense_Mutation_p.R222P	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	222					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.R222H(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587000													29	27					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119563266	119563266	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:119563266C>A	ENST00000267260.4	+	7	984	c.596C>A	c.(595-597)cCc>cAc	p.P199H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	199	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						GAGTCCCGCCCCTCAAGCTGT	0.627000													16	24					4.01765e-15	5.42328e-15	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31017711	31017711	+	Silent	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:31017711G>T	ENST00000375687.4	+	8	997	c.573G>T	c.(571-573)tcG>tcT	p.S191S	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Silent_p.S186S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642000			"""F, N, Mis"""		"""MDS, CMML"""								14	57					5.3912e-06	5.89663e-06	1	1	0
ENPP6	133121	broad.mit.edu	37	4	185045392	185045392	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:185045392G>T	ENST00000296741.2	-	3	596	c.455C>A	c.(454-456)aCc>aAc	p.T152N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	152					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TAGGCAGTAGGTGGGTCTGAC	0.423000													65	91					6.11987e-43	1.18998e-42	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590226	140590226	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140590226G>T	ENST00000239450.2	+	1	1936	c.1747G>T	c.(1747-1749)Ggc>Tgc	p.G583C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G246C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		583	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCGAGCCGGGCTACCTGGT	0.697000													103	164					4.94481e-55	1.01805e-54	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196651890	196651890	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:196651890T>A	ENST00000312428.6	-	58	10822	c.10722A>T	c.(10720-10722)gaA>gaT	p.E3574D	DNAH7_ENST00000409063.1_Missense_Mutation_p.E57D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3574	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCTTGAATTCCTCCTGTA	0.328000													43	16					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972598	40972598	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:40972598G>C	ENST00000313164.9	+	15	2335	c.1976G>C	c.(1975-1977)tGt>tCt	p.C659S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	659	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTGTTTCCTGTTCAGGTGGC	0.468000													76	51					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103163848	103163848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:103163848C>A	ENST00000424685.2	-	47	7639	c.7480G>T	c.(7480-7482)Gga>Tga	p.G2494*	RELN_ENST00000343529.5_Nonsense_Mutation_p.G2494*|RELN_ENST00000428762.1_Nonsense_Mutation_p.G2494*			P78509	RELN_HUMAN	reelin	2494	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACGCAGTTTCCCTGGATGCAT	0.448000													89	96					9.91269e-35	1.82602e-34	1	1	0
DEF6	50619	broad.mit.edu	37	6	35280196	35280196	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:35280196G>T	ENST00000316637.5	+	4	546	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	181						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGGCTCAGCGTCTGGCAGTT	0.652000													15	59					6.33239e-15	8.50101e-15	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68011906	68011906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:68011906C>A	ENST00000268793.4	-	5	1139	c.766G>T	c.(766-768)Gag>Tag	p.E256*		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	231					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GTGGAACTCTCTGCCCTGCAG	0.552000													25	21					7.11191e-15	9.49546e-15	1	1	0
ALPI	248	broad.mit.edu	37	2	233321649	233321649	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:233321649C>T	ENST00000295463.3	+	4	418	c.341C>T	c.(340-342)aCa>aTa	p.T114I		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	114					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCGCAGCCACAGCCACGGCC	0.612000													46	14					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2790430	2790430	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:2790430G>T	ENST00000307741.6	+	2	231	c.28G>T	c.(28-30)Gac>Tac	p.D10Y		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	10					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGGAGACATGGCGGA	0.597000													30	107					2.2871e-25	3.77332e-25	1	1	0
WDR49	151790	broad.mit.edu	37	3	167254657	167254657	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:167254657C>A	ENST00000308378.3	-	7	1204		c.e7+1		WDR49_ENST00000453925.2_Splice_Site|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Splice_Site	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTTCAATTTACCCGTAACAAG	0.368000													5	37					0.248553	0.250598	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51923249	51923249	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:51923249C>T	ENST00000371117.3	-	16	1659	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A462T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	462					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCTTGGGGCTATCCCATGA	0.547000													59	198					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	22002012	22002012	+	Silent	SNP	T	T	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:22002012T>C	ENST00000354959.4	-	2	184	c.15A>G	c.(13-15)acA>acG	p.T5T	ZNF43_ENST00000595461.1_5'UTR|ZNF43_ENST00000598381.1_5'UTR|ZNF43_ENST00000594012.1_5'UTR|ZNF43_ENST00000598288.1_5'UTR	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATCCATAAATGTCAATGGTC	0.388000													35	54					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15841214	15841214	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:15841214G>T	ENST00000307771.7	+	11	1322	c.1298G>T	c.(1297-1299)cGc>cTc	p.R433L		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	433	Arg/Ser-rich (RS domain).				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGCAGGGACCGCAGCCGGGGC	0.647000			"""F, S, Mis"""		"""MDS, CLL"""								9	7					7.48243e-07	8.42848e-07	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120998777	120998777	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:120998777C>A	ENST00000273666.6	+	19	2355	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P695H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P695H|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P695H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P695H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	695					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACGGTCTCCTCGAAAAAAC	0.378000													30	31					7.63505e-26	1.27685e-25	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3242067	3242067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:3242067G>T	ENST00000217939.6	-	5	1813	c.1659C>A	c.(1657-1659)taC>taA	p.Y553*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	553	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATGCACTGGTACAAGCCTG	0.527000													10	7					5.16669e-11	6.28208e-11	1	1	0
RASGRP4	115727	broad.mit.edu	37	19	38910609	38910609	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:38910609G>T	ENST00000454404.2	-	6	767	c.554C>A	c.(553-555)cCa>cAa	p.P185Q	RASGRP4_ENST00000587753.1_Missense_Mutation_p.P185Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P171Q|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P185Q|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P185Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P185Q|RASGRP4_ENST00000426920.2_Missense_Mutation_p.P185Q	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	185					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCAGGCCTGGGCTGCTCAT	0.632000													20	21					9.57634e-11	1.15293e-10	1	1	0
PIK3C3	5289	broad.mit.edu	37	18	39623776	39623776	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:39623776G>C	ENST00000262039.4	+	20	2269	c.2183G>C	c.(2182-2184)aGc>aCc	p.S728T	PIK3C3_ENST00000589056.1_Missense_Mutation_p.S75T|PIK3C3_ENST00000587402.1_Missense_Mutation_p.S75T|PIK3C3_ENST00000398870.3_Missense_Mutation_p.S665T|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S213T	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	728	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TACGTTAAAAGCTGTGGTAAG	0.348000										TSP Lung(28;0.18)			49	27					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415335	57415335	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:57415335C>A	ENST00000313949.7	+	1	563	c.174C>A	c.(172-174)gcC>gcA	p.A58A	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.A58A|GNAS_ENST00000371098.2_Silent_p.A58A|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGCGGCTGCCCAACAGCGCC	0.711000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			27	20					2.61193e-14	3.45905e-14	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174763	140174763	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140174763G>T	ENST00000526136.1	+	1	214	c.214G>T	c.(214-216)Ggg>Tgg	p.G72W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G72W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G72W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAAGACACGGGGACCTTCT	0.622000													18	87					1.99536e-56	4.16054e-56	1	1	0
TPX2	22974	broad.mit.edu	37	20	30363695	30363695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:30363695G>T	ENST00000340513.4	+	8	1162	c.634G>T	c.(634-636)Gag>Tag	p.E212*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.E212*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	212					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGTACTGAGGAGCAAGAGCT	0.423000													6	47					0.00307968	0.00321758	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457589	110457589	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:110457589C>A	ENST00000378402.5	+	38	5595	c.5491C>A	c.(5491-5493)Ccc>Acc	p.P1831T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1831	IPT/TIG 11.				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)			TGTCAGCAGCCCCCCAGTAGC	0.502000										HNSCC(38;0.096)			50	39					5.2118e-15	7.01588e-15	1	1	0
RFFL	117584	broad.mit.edu	37	17	33343586	33343586	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:33343586T>A	ENST00000315249.7	-	5	911	c.689A>T	c.(688-690)gAg>gTg	p.E230V	RFFL_ENST00000413582.2_Missense_Mutation_p.E230V|RFFL_ENST00000394597.2_Missense_Mutation_p.E230V|RFFL_ENST00000378516.2_Missense_Mutation_p.E230V|RFFL_ENST00000268850.7_Missense_Mutation_p.E202V|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.E147V|RFFL_ENST00000584655.1_Missense_Mutation_p.E202V|RFFL_ENST00000447669.2_Missense_Mutation_p.E230V|RFFL_ENST00000415395.2_Missense_Mutation_p.E230V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	230					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAGCTGTCCTCTGAGTCAAT	0.527000													35	19					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683341	84683341	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:84683341A>T	ENST00000286744.5	+	24	4245	c.4021A>T	c.(4021-4023)Agt>Tgt	p.S1341C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1341C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1341	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGATCTCTGAGTGGCAATGT	0.433000													42	62					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202303	248202303	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:248202303C>T	ENST00000366479.2	+	1	830	c.734C>T	c.(733-735)aCt>aTt	p.T245I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCCACCTCACTGTAGTGTCC	0.502000													31	154					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63757700	63757700	+	Silent	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:63757700G>A	ENST00000316754.3	+	5	1065	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	201					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.K201N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAAAAAGAAGAAACGCTGTT	0.488000													28	23					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59519758	59519758	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:59519758C>A	ENST00000288235.4	-	7	941	c.542G>T	c.(541-543)gGt>gTt	p.G181V	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	181	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.G181A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGGTTCCCCACCTGGACTGAA	0.438000													29	44					4.65686e-17	6.59498e-17	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47940752	47940752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:47940752C>A	ENST00000236877.6	-	8	2472	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	SLC8A2_ENST00000542837.1_Nonsense_Mutation_p.E449*|SLC8A2_ENST00000539381.1_Nonsense_Mutation_p.E156*|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	693					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAAAACTGCTCCCTCCATGAA	0.527000													37	71					4.86159e-25	7.96716e-25	1	1	0
TFDP2	7029	broad.mit.edu	37	3	141697431	141697431	+	Silent	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:141697431C>A	ENST00000499676.2	-	7	938	c.267G>T	c.(265-267)tcG>tcT	p.S89S	TFDP2_ENST00000397991.4_Silent_p.S122S|TFDP2_ENST00000467072.1_Silent_p.S89S|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000317104.7_Silent_p.S73S|TFDP2_ENST00000310282.6_Silent_p.S89S|TFDP2_ENST00000495310.1_Silent_p.S53S|TFDP2_ENST00000489671.1_Silent_p.S150S|TFDP2_ENST00000486111.1_Silent_p.S89S|TFDP2_ENST00000479040.1_Silent_p.S89S|TFDP2_ENST00000477292.1_Silent_p.S14S	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	150					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CTTCATTGTACGATGTTGTAC	0.378000													43	56					7.05377e-20	1.04738e-19	1	1	0
TBCCD1	55171	broad.mit.edu	37	3	186272084	186272084	+	Silent	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:186272084T>A	ENST00000424280.1	-	6	1982	c.1503A>T	c.(1501-1503)atA>atT	p.I501I	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Silent_p.I405I|TBCCD1_ENST00000338733.5_Silent_p.I501I	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	501					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GCCAGATCTGTATCTTCTGTT	0.388000													28	105					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404281	20404281	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:20404281C>T	ENST00000285600.4	+	1	515	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGGCGGTGGGCGTTCTTCATT	0.458000													22	292					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24837129	24837129	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:24837129G>A	ENST00000337539.7	+	3	1370	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ADORA2A_ENST00000496497.1_3'UTR|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	304					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AAGATCATTCGCAGCCACGTC	0.592000													15	28					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58420278	58420278	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr20:58420278G>T	ENST00000371015.1	+	12	2089	c.1622G>T	c.(1621-1623)aGt>aTt	p.S541I	PHACTR3_ENST00000541461.1_Missense_Mutation_p.S500I|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S500I|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S500I|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S538I|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S430I|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S430I	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	541						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGTACAAAAGTAATGAAATG	0.333000													3	70					1	1	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26688869	26688869	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:26688869G>T	ENST00000529632.2	+	2	788	c.592G>T	c.(592-594)Gca>Tca	p.A198S	SEZ6L_ENST00000360929.3_Missense_Mutation_p.A198S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A198S|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A198S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A198S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	198						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TACAACACCCGCACCCCTGCA	0.667000													61	98					2.43516e-34	4.4358e-34	1	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764323	109764323	+	RNA	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:109764323G>T	ENST00000602699.1	+	0	784					NR_002718.2																						TTAAAGCGATGCTAACGCCTC	0.408000													48	6					6.3008e-33	1.11458e-32	1	1	0
BNIP3L	665	broad.mit.edu	37	8	26267914	26267914	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:26267914G>T	ENST00000380629.2	+	6	879	c.646G>T	c.(646-648)Gcc>Tcc	p.A216S	BNIP3L_ENST00000518611.1_Missense_Mutation_p.A176S|BNIP3L_ENST00000520409.1_Missense_Mutation_p.A176S|BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000523515.1_Missense_Mutation_p.A176S	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	216					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CACACCCTCTGCCAGCACCTA	0.458000													10	38					6.40141e-05	6.8041e-05	1	1	0
AEBP1	165	broad.mit.edu	37	7	44150555	44150555	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:44150555A>T	ENST00000223357.3	+	13	1834	c.1529A>T	c.(1528-1530)gAg>gTg	p.E510V	AEBP1_ENST00000450684.2_Missense_Mutation_p.E53V	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	510	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTGCTGAGTGAGCTCCCAGAG	0.637000													56	65					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192160877	192160877	+	Missense_Mutation	SNP	G	G	T	rs146816421		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:192160877G>T	ENST00000392318.3	+	3	423	c.176G>T	c.(175-177)cGg>cTg	p.R59L	MYO1B_ENST00000339514.4_Missense_Mutation_p.R59L|MYO1B_ENST00000304164.4_Missense_Mutation_p.R59L|MYO1B_ENST00000392316.1_Missense_Mutation_p.R59L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	59	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACCCATACCGGTCTTTACCC	0.353000													13	18					4.22769e-11	5.16601e-11	1	1	0
MVP	9961	broad.mit.edu	37	16	29859306	29859306	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:29859306G>C	ENST00000357402.5	+	15	2816	c.2678G>C	c.(2677-2679)cGc>cCc	p.R893P	MVP_ENST00000395353.1_Missense_Mutation_p.R893P	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	893					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCTGTACTGCGCTAACTCCTG	0.532000													10	14					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069043	21069043	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:21069043G>T	ENST00000381545.3	+	16	2190	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.K657N|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	657					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGATACCAAGGCATCGGACA	0.313000													24	9					9.90768e-06	1.07644e-05	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322048	55322048	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:55322048C>A	ENST00000314644.2	+	1	266	c.266C>A	c.(265-267)gCa>gAa	p.A89E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTCTACATTGCAACTGTTGGG	0.423000										HNSCC(20;0.049)			73	88					9.01214e-43	1.74543e-42	1	1	0
TDRD9	122402	broad.mit.edu	37	14	104491913	104491913	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:104491913G>T	ENST00000409874.4	+	26	2779	c.2731G>T	c.(2731-2733)Gga>Tga	p.G911*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.G911*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	911					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGTTGAAGTGGGACACTTTTG	0.438000													5	51					0.184627	0.187303	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8385953	8385953	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:8385953A>G	ENST00000471889.1	+	4	951	c.566A>G	c.(565-567)cAc>cGc	p.H189R	SLC45A1_ENST00000377479.2_Missense_Mutation_p.H223R|SLC45A1_ENST00000289877.8_Missense_Mutation_p.H189R			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	189					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGGGAACCACAAGTGGGGC	0.627000													38	146					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657049	77657049	+	Silent	SNP	C	C	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:77657049C>G	ENST00000461745.1	+	21	4137	c.3237C>G	c.(3235-3237)gtC>gtG	p.V1079V	ROBO2_ENST00000332191.8_Silent_p.V1079V|ROBO2_ENST00000487694.3_Silent_p.V1095V|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1079					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCCCCCAGTCCAGCCCCTTC	0.458000													9	48					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354777	122354777	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:122354777G>A	ENST00000483793.1	+	9	1322	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R	PARP15_ENST00000464300.2_Missense_Mutation_p.G623R|PARP15_ENST00000493645.1_Missense_Mutation_p.G320R|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.G389R			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	601	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGTACTTACTGGAGTCTTCAC	0.478000													12	58					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815675	106815675	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:106815675G>T	ENST00000407775.2	+	8	3615	c.3365G>T	c.(3364-3366)cGg>cTg	p.R1122L	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R853L|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R990L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R990L|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1122					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAATATTGCCGGCTATGTGAT	0.413000													32	56					9.17885e-22	1.4233e-21	1	1	0
PAK1	5058	broad.mit.edu	37	11	77048467	77048467	+	Splice_Site	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:77048467C>A	ENST00000356341.3	-	12	1649	c.1116_splice	c.e12-1	p.C373_splice	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Splice_Site_p.C373_splice|PAK1_ENST00000528203.1_Splice_Site_p.C275_splice|PAK1_ENST00000278568.4_Splice_Site_p.C373_splice	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	373	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AGCCTGCAGACACTATTGAAG	0.408000													4	38					1	1	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15648690	15648690	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:15648690G>T	ENST00000269703.2	+	7	756	c.557G>T	c.(556-558)tGg>tTg	p.W186L	CYP4F22_ENST00000601005.2_Missense_Mutation_p.W186L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	186						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAGGCTAAATGGCGGCATCTG	0.502000													23	103					1.17739e-12	1.49076e-12	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212578371	212578371	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:212578371T>A	ENST00000342788.4	-	8	1196	c.886A>T	c.(886-888)Aac>Tac	p.N296Y	ERBB4_ENST00000436443.1_Missense_Mutation_p.N296Y|ERBB4_ENST00000402597.1_Missense_Mutation_p.N296Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	296	Cys-rich.				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)		ACCACAAAGTTATCTGATTAA	0.323000										TSP Lung(8;0.080)			26	5					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416603	105416603	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:105416603C>A	ENST00000333244.5	-	7	5304	c.5185G>T	c.(5185-5187)Ggc>Tgc	p.G1729C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1729						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)			GGAAGGGGGCCCTCCGGGAGT	0.632000													99	379					2.03867e-50	4.09404e-50	1	1	0
EHD2	30846	broad.mit.edu	37	19	48244466	48244466	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:48244466C>T	ENST00000263277.3	+	6	1660	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.S334F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	470	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGAGCGGCTCCAAGGCCAAG	0.622000													7	34					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181911	57181911	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:57181911G>T	ENST00000504228.1	+	6	2348	c.2243G>T	c.(2242-2244)aGa>aTa	p.R748I	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R748I|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R741I			Q6ZU35	K1211_HUMAN	KIAA1211	748										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATACGAAAAAGACCCATGCTG	0.572000													20	43					7.45023e-12	9.31278e-12	1	1	0
APBA2	321	broad.mit.edu	37	15	29346346	29346346	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr15:29346346G>T	ENST00000558402.1	+	5	858	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	APBA2_ENST00000411764.1_Missense_Mutation_p.D87Y|APBA2_ENST00000561069.1_Missense_Mutation_p.D87Y|APBA2_ENST00000558330.1_Missense_Mutation_p.D87Y|APBA2_ENST00000558259.1_Missense_Mutation_p.D87Y			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	87					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGAGGACTATGACGAGGGCCT	0.612000													80	68					5.89325e-56	1.21844e-55	1	1	0
RALYL	138046	broad.mit.edu	37	8	85441611	85441611	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:85441611A>T	ENST00000521268.1	+	2	1160	c.55A>T	c.(55-57)Atc>Ttc	p.I19F	RALYL_ENST00000522455.1_Missense_Mutation_p.I19F|RALYL_ENST00000518566.1_Missense_Mutation_p.I19F|RALYL_ENST00000521695.1_Missense_Mutation_p.I19F|RALYL_ENST00000517638.1_Missense_Mutation_p.I32F	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	19							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCCCAAGTCCATCAACTCCCG	0.388000													4	21					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507807	233507807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:233507807C>T	ENST00000366624.3	+	6	1837	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	MLK4_ENST00000366623.3_Nonsense_Mutation_p.Q526*	NM_032435.2	NP_115811.2																					GATAACCGTGCAGGCCTCTCC	0.517000													28	85					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181045	19181045	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:19181045C>A	ENST00000375371.3	-	3	940	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	307					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGACCGGGTCGATGGCCCAG	0.637000													42	31					2.2618e-39	4.29566e-39	1	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159385	18159385	+	Silent	SNP	C	C	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:18159385C>T	ENST00000396275.2	+	3	997	c.636C>T	c.(634-636)acC>acT	p.T212T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	212						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						TGCCGCTGACCAGGCTGTACG	0.557000													52	38					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(370-375)tagtttfs	p.*F124fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													7	264	---	---	---	---					
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)del	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384													19	155	---	---	---	---					
CYP4B1	1580	broad.mit.edu	37	1	47264783	47264785	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:47264783_47264785delCTC	ENST00000271153.4	+	1	66_68	c.30_32delCTC	c.(28-33)ttc>tt	p.FS10del	CYP4B1_ENST00000371923.4_In_Frame_Del_p.FS10del|CYP4B1_ENST00000371919.4_In_Frame_Del_p.FS10del|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	10					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCTGAGCTTCTCCTCCTTGGGC	0.571													13	53	---	---	---	---					
TRMT1L	81627	broad.mit.edu	37	1	185116352	185116355	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:185116352_185116355delGTAA	ENST00000367504.3	-	4	755_758	c.16_19delTTAC	c.(16-21)ctfs	p.LP6fs	TRMT1L_ENST00000367506.5_Frame_Shift_Del_p.LP162fs			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	162						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGTCGACAAGGTAAGTGACAGATG	0.275													33	183	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197070953	197070955	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:197070953_197070955delCTT	ENST00000367409.4	-	18	7682_7684	c.7426_7428delAAG	c.(7426-7428)del	p.K2476del	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2476	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCTTGTAACTTCTTCTTTACC	0.369													30	135	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237001848	237001849	+	Frame_Shift_Ins	INS	-	-	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:237001848_237001849insA	ENST00000366577.5	+	15	1858_1859	c.1464_1465insA	c.(1462-1467)ataaaafs	p.IK488fs	MTR_ENST00000535889.1_Frame_Shift_Ins_p.IK488fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	488	Pterin-binding.				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)	CCAGGAAGATTAAAAAGTATGG	0.446													78	79	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240286574	240286576	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr1:240286574_240286576delCTC	ENST00000319653.9	+	2	1941_1943	c.1711_1713delCTC	c.(1711-1713)del	p.L572del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	572					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATGGGTCTTCTCCTTCCTTTTA	0.507													32	92	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22410705	22410706	+	RNA	INS	-	-	G	rs142413556	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:22410705_22410706insG	ENST00000450551.1	-	0	200																											AGCGGGAGGTAGGGGGTGGGGG	0.515													5	2	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61632973	61632974	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:61632973_61632974delTT	ENST00000398571.2	-	3	497_498	c.421_422delAA	c.(421-423)gfs	p.K141fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	141					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCAGAACTCTTTGAAGATTCC	0.317													11	48	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152381116	152381117	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:152381116_152381117delTT	ENST00000397345.3	-	152	22488_22489	c.22286_22287delAA	c.(22285-22287)afs	p.K7429fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.K7429fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K5728fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.K7429fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K7429fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K5728fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5728					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTGGCATCTTTTCTGTAAGC	0.411													41	155	---	---	---	---					
NOP58	51602	broad.mit.edu	37	2	203155894	203155896	+	In_Frame_Del	DEL	AGA	AGA	-	rs147158311	byFrequency	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:203155894_203155896delAGA	ENST00000264279.5	+	8	907_909	c.681_683delAGA	c.(679-684)cca>cc	p.PE227del		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	227					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGTTGCTGCCAGAAGAAGTTGAA	0.419													39	73	---	---	---	---					
COL6A3	1293	broad.mit.edu	37	2	238243323	238243328	+	In_Frame_Del	DEL	CCACAG	CCACAG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr2:238243323_238243328delCCACAG	ENST00000295550.4	-	41	9622_9627	c.9170_9175delCTGTGG	c.(9169-9177)gtc>g	p.AVV3057del	COL6A3_ENST00000353578.4_In_Frame_Del_p.AVV2851del|COL6A3_ENST00000472056.1_In_Frame_Del_p.AVV2450del|COL6A3_ENST00000409809.1_In_Frame_Del_p.AVV2851del|COL6A3_ENST00000347401.3_In_Frame_Del_p.AVV2856del|COL6A3_ENST00000346358.4_In_Frame_Del_p.AVV2857del	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3057	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A3057V(1)		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)		AGGTAGCAGACCACAGCCACATGGTA	0.534													27	18	---	---	---	---					
BTLA	151888	broad.mit.edu	37	3	112198471	112198473	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:112198471_112198473delTGT	ENST00000334529.5	-	2	434_436	c.232_234delACA	c.(232-234)del	p.T78del	BTLA_ENST00000383680.4_In_Frame_Del_p.T78del	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	78	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				GTTTTACACATGTTGTTCCATTG	0.399													46	197	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)del	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	77	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68583147	68583147	+	RNA	DEL	G	G	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr4:68583147delG	ENST00000500538.2	+	0	124				RP11-453E17.1_ENST00000506606.1_RNA|RP11-453E17.1_ENST00000498917.2_RNA|RP11-453E17.1_ENST00000514109.1_RNA																							ATGGGTGGCAGGAACTCCCTC	0.473													13	25	---	---	---	---					
FAM105B	90268	broad.mit.edu	37	5	14693064	14693064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:14693064delC	ENST00000284274.4	+	7	1044	c.966delC	c.(964-966)gafs	p.D322fs		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	322										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ACCCCACCGACCCACCCAAGG	0.537													16	89	---	---	---	---					
KIF2A	3796	broad.mit.edu	37	5	61668339	61668341	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:61668339_61668341delCTT	ENST00000407818.3	+	17	1742_1744	c.1721_1723delCTT	c.(1720-1725)cct>c	p.PS574del	KIF2A_ENST00000381103.2_Intron|KIF2A_ENST00000401507.3_Intron|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Intron	NM_001098511.2	NP_001091981.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	551					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GATCTCTCTCCTTCTTATGAATA	0.384													8	20	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131705726	131705728	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:131705726_131705728delTCT	ENST00000245407.3	+	1	283_285	c.62_64delTCT	c.(61-66)atc>a	p.IF21del	SLC22A5_ENST00000435065.2_In_Frame_Del_p.IF21del	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	21					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CAGCGCCTCATCTTCTTCCTGCT	0.695											OREG0003451	type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	27	---	---	---	---					
PCDHB15	56121	broad.mit.edu	37	5	140625198	140625200	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:140625198_140625200delCTT	ENST00000231173.3	+	1	52_54	c.52_54delCTT	c.(52-54)del	p.L21del		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		21					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGATTCTCCTTCTTTTACTGG	0.522													15	93	---	---	---	---					
GFPT2	9945	broad.mit.edu	37	5	179734272	179734274	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr5:179734272_179734274delCTC	ENST00000253778.8	-	16	1745_1747	c.1576_1578delGAG	c.(1576-1578)del	p.E526del		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	526					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CGTGGATCTTCTCCTCCAGAGAC	0.552													15	55	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(499-504)gggcgg>ggGGCgcgg	p.167_168GR>GAR	SOX4_ENST00000543472.1_In_Frame_Ins_p.167_168GR>GAR	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	167					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738													5	5	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31324481	31324483	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:31324481_31324483delGTA	ENST00000412585.2	-	2	353_355	c.325_327delTAC	c.(325-327)del	p.Y109del		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGCTCTGGTTGTAGTAGCCGCGC	0.680									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				43	50	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32944099	32944101	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:32944099_32944101delCTC	ENST00000395289.2	+	6	2284_2286	c.683_685delCTC	c.(682-687)act>a	p.TP228del	BRD2_ENST00000395287.1_In_Frame_Del_p.TP228del|BRD2_ENST00000443797.2_In_Frame_Del_p.TP108del|BRD2_ENST00000374831.4_In_Frame_Del_p.TP228del|BRD2_ENST00000374825.4_In_Frame_Del_p.TP228del|BRD2_ENST00000449085.2_In_Frame_Del_p.TP181del			P25440	BRD2_HUMAN	bromodomain containing 2	228					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GCCCTGTATACTCCTCCACCTGA	0.527													24	163	---	---	---	---					
IL22RA2	116379	broad.mit.edu	37	6	137479540	137479540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:137479540delC	ENST00000296980.2	-	3	441	c.141delG	c.(139-141)tgfs	p.W47fs	IL22RA2_ENST00000339602.3_Frame_Shift_Del_p.W47fs|IL22RA2_ENST00000349184.4_Frame_Shift_Del_p.W47fs	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	47	Fibronectin type-III 1.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TCCCAGGCTGCCATTGCAAAA	0.443													45	68	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152702486	152702489	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr6:152702486_152702489delATCT	ENST00000367255.5	-	56	9262_9265	c.8661_8664delAGAT	c.(8659-8664)atfs	p.ID2887fs	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.ID2887fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.ID2894fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.ID2926fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.ID2894fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2887					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)		TCTCTCTGGAATCTATCAGCTCCT	0.525										HNSCC(10;0.0054)			64	217	---	---	---	---					
CPVL	54504	broad.mit.edu	37	7	29105649	29105650	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:29105649_29105650delAA	ENST00000409850.1	-	14	1598_1599	c.952_953delTT	c.(952-954)gfs	p.L318fs	CPVL_ENST00000396276.3_Frame_Shift_Del_p.L318fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.L318fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	318					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CGTGCACCGCAAAAAGTTATAG	0.342													46	127	---	---	---	---					
LOC646762	646762	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													7	23	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82476452	82476453	+	Splice_Site	DEL	CA	CA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:82476452_82476453delCA	ENST00000423517.2	-	11	14101		c.e11+1		PCLO_ENST00000426442.2_Intron|PCLO_ENST00000333891.8_Splice_Site	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						GGGAAAAACTCACAGTCTTACA	0.356													8	26	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99917425	99917427	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr7:99917425_99917427delGGA	ENST00000332397.6	+	9	1768_1770	c.1584_1586delGGA	c.(1582-1587)ttg>tt	p.LE528del	SPDYE3_ENST00000437326.2_In_Frame_Del_p.LE151del	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	528										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CGGAGGAGTTGGAGGAGGTGGGT	0.635													25	108	---	---	---	---					
CNGB3	54714	broad.mit.edu	37	8	87679324	87679324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:87679324delA	ENST00000320005.5	-	6	728	c.681delT	c.(679-681)ctfs	p.L227fs		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	227					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTATAGGCAAGAGTGACAA	0.433													9	87	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116617099	116617101	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:116617099_116617101delTGT	ENST00000395715.3	-	4	1672_1674	c.1095_1097delACA	c.(1093-1098)cat>ca	p.QH365del	TRPS1_ENST00000519674.1_In_Frame_Del_p.QH352del|TRPS1_ENST00000519076.1_In_Frame_Del_p.QH306del|TRPS1_ENST00000520276.1_In_Frame_Del_p.QH356del|TRPS1_ENST00000220888.5_In_Frame_Del_p.QH352del	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	352					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGAAGAAAATGTTGTTCTAATT	0.419									Langer-Giedion syndrome				12	144	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116631927	116631927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr8:116631927delC	ENST00000395715.3	-	3	975	c.398delG	c.(397-399)gafs	p.G133fs	TRPS1_ENST00000519674.1_Frame_Shift_Del_p.G120fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.G74fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.G124fs|TRPS1_ENST00000220888.5_Frame_Shift_Del_p.G120fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	120					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCACAGACTCCCCCAGCAGC	0.517									Langer-Giedion syndrome				11	103	---	---	---	---					
DCAF12	25853	broad.mit.edu	37	9	34125082	34125084	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:34125082_34125084delTTA	ENST00000361264.4	-	2	611_613	c.270_272delTAA	c.(268-273)aaa>aa	p.NK90del	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	90						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TGCAAACACTTTATTAAGGGTCC	0.488													15	120	---	---	---	---					
DCAF12	25853	broad.mit.edu	37	9	34125105	34125106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:34125105_34125106delCT	ENST00000361264.4	-	2	589_590	c.248_249delAG	c.(247-249)gfs	p.E83fs	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	83						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CAAGGTGAAACTCTCTCTCCTT	0.490													10	110	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35733427	35733428	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:35733427_35733428delAG	ENST00000353704.2	+	4	818_819	c.380_381delAG	c.(379-381)afs	p.K127fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	151					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GATGAGGAGAAGAGTCTATTGG	0.475													8	119	---	---	---	---					
NOXA1	10811	broad.mit.edu	37	9	140325748	140325749	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr9:140325748_140325749delAG	ENST00000341349.2	+	8	939_940	c.759_760delAG	c.(757-762)acagfs	p.TE253fs	NOXA1_ENST00000392815.2_Frame_Shift_Del_p.TE197fs	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	253					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		ATGCAGAGACAGAGGTCGGTGC	0.668													36	102	---	---	---	---					
SUPV3L1	6832	broad.mit.edu	37	10	70962674	70962677	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr10:70962674_70962677delATGG	ENST00000359655.4	+	13	1711_1714	c.1651_1654delATGG	c.(1651-1656)atfs	p.MD551fs		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	551					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTCTGCAATATGGATGATTTTAA	0.373													23	218	---	---	---	---					
PARVA	55742	broad.mit.edu	37	11	12525922	12525922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:12525922delC	ENST00000334956.8	+	6	1066	c.723delC	c.(721-723)ttfs	p.F241fs	PARVA_ENST00000538608.1_Frame_Shift_Del_p.F148fs|PARVA_ENST00000550549.1_Frame_Shift_Del_p.F201fs|PARVA_ENST00000539723.1_Frame_Shift_Del_p.F201fs	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	201					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTCAGTATTTCCGCGCACCAA	0.453													39	71	---	---	---	---					
METTL12	751071	broad.mit.edu	37	11	62434122	62434123	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:62434122_62434123delTT	ENST00000532971.1	+	3	579_580	c.322_323delTT	c.(322-324)tfs	p.F108fs	METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	108						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGGGTGGACTTTTCTCCTGTG	0.589													13	111	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65272241	65272242	+	RNA	DEL	TA	TA	-	rs111657068		TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr11:65272241_65272242delTA	ENST00000534336.1	+	0	7009_7010					NR_002819.2																						GTGCATTGTTTATGTGTGGGTT	0.426													46	55	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40672046	40672048	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr12:40672046_40672048delTCT	ENST00000298910.7	+	18	2282_2284	c.2224_2226delTCT	c.(2224-2226)del	p.S743del	LRRK2_ENST00000343742.2_In_Frame_Del_p.S743del	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	743					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGGAGGGATCTTCTTTAATTT	0.384													8	125	---	---	---	---					
RPS6KA5	9252	broad.mit.edu	37	14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)gtfs	p.S448fs	RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323													78	256	---	---	---	---					
IGHV2OR16-5	100129631	broad.mit.edu	37	16	32859300	32859300	+	RNA	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:32859300delC	ENST00000560724.1	+	0	124																											GATCCGTCAGCCCCCAGGGAA	0.532													8	53	---	---	---	---					
TSNAXIP1	55815	broad.mit.edu	37	16	67858656	67858658	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr16:67858656_67858658delGAG	ENST00000388833.3	+	6	867_869	c.490_492delGAG	c.(490-492)del	p.E165del	TSNAXIP1_ENST00000561639.1_In_Frame_Del_p.E219del|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_In_Frame_Del_p.E150del	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	165					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAAAAAGAATGAGGAGAAGATTT	0.473													7	30	---	---	---	---					
TBKBP1	9755	broad.mit.edu	37	17	45776824	45776825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:45776824_45776825insG	ENST00000361722.3	+	5	1622_1623	c.773_774insG	c.(772-774)cggfs	p.R258fs		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	258					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GAGCGGCTGCAGGGGGAGCTGA	0.703											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	251	---	---	---	---					
MBD2	8932	broad.mit.edu	37	18	51731402	51731403	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr18:51731402_51731403delTG	ENST00000256429.3	-	2	895_896	c.667_668delCA	c.(667-669)gfs	p.Q223fs	MBD2_ENST00000583046.1_Frame_Shift_Del_p.Q223fs|MBD2_ENST00000398398.2_Frame_Shift_Del_p.Q223fs	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	223					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCGCAGTCTCTGTTTGTTCTTC	0.386													38	244	---	---	---	---					
TGFB1	7040	broad.mit.edu	37	19	41838172	41838174	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:41838172_41838174delTTC	ENST00000221930.5	-	6	1739_1741	c.873_875delGAA	c.(871-876)aac>aa	p.KN291del		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	291					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CACGCAGCAGTTCTTCTCCGTGG	0.640													12	17	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													15	84	---	---	---	---					
SIGLEC22P	114195	broad.mit.edu	37	19	51715103	51715104	+	RNA	INS	-	-	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:51715103_51715104insA	ENST00000602065.1	+	0	503_504																											CTGGCCACCCCAGGAACCTGAC	0.653													51	53	---	---	---	---					
ZNF468	90333	broad.mit.edu	37	19	53345196	53345197	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:53345196_53345197delTT	ENST00000595646.1	-	4	470_471	c.350_351delAA	c.(349-351)afs	p.K117fs	ZNF468_ENST00000396409.4_Frame_Shift_Del_p.K64fs|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.K64fs|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGCCAACTCTTTGATTTCTGT	0.416													26	359	---	---	---	---					
SLC27A5	10998	broad.mit.edu	37	19	59023279	59023281	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr19:59023279_59023281delAGC	ENST00000263093.2	-	1	151_153	c.42_44delGCT	c.(40-45)ctc>ct	p.LL16del	SLC27A5_ENST00000601355.1_In_Frame_Del_p.LL16del	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	16					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCAGagcaggagcagcagcagca	0.650													2	4	---	---	---	---					
TMPRSS15	5651	broad.mit.edu	37	21	19725322	19725322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr21:19725322delC	ENST00000284885.3	-	10	1102	c.1069delG	c.(1069-1071)tcfs	p.V357fs		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	357	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGATCCTGGACCCAGAAACAA	0.343													38	31	---	---	---	---					
CSNK1E	1454	broad.mit.edu	37	22	38695939	38695941	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:38695939_38695941delTCT	ENST00000396832.1	-	6	955_957	c.695_697delAGA	c.(694-699)atg>a	p.KM232del	CSNK1E_ENST00000400206.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_In_Frame_Del_p.KM232del|CSNK1E_ENST00000405675.3_In_Frame_Del_p.KM232del|CSNK1E_ENST00000403904.1_In_Frame_Del_p.KM232del|CSNK1E_ENST00000359867.3_In_Frame_Del_p.KM232del	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	232	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCGTTGACATCTTCTTCTCGCT	0.596													24	182	---	---	---	---					
LOC101927202	101927202	broad.mit.edu	37	22	39487665	39487665	+	RNA	DEL	A	A	-	rs139272	by1000genomes	TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chr22:39487665delA	ENST00000424436.1	+	0	27																											ACCATGTGGTAAAAGTGGCCG	0.572													2	4	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73048839	73048840	+	RNA	INS	-	-	A			TCGA-95-7562-01A-11D-2238-08	TCGA-95-7562-10B-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853da3d9-cb26-4c93-8f69-a1bc3beb845c	3445d7d3-2dd3-4d43-b187-6ab1c720fd42	g.chrX:73048839_73048840insA	ENST00000604411.1	+	0	36800_36801				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CACCAGCTCCCAAAAAACAGCT	0.450													5	8	---	---	---	---					
