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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF76	7629	broad.mit.edu	37	6	35255527	35255527	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	uc003oki.1	+	4	542	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_uc011dsy.1_Missense_Mutation_p.V113I|ZNF76_uc011dsz.1_Missense_Mutation_p.V113I|ZNF76_uc003okj.1_Missense_Mutation_p.V113I|ZNF76_uc011dsx.2_Missense_Mutation_p.V113I	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCCTGGCCGTACAGACAGA	0.607000														56			4		0	0	0.009096	0	0
C15orf2	23742	broad.mit.edu	37	15	24923452	24923452	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:24923452C>T	uc001ywo.3	+	0	2912	c.2438C>T	c.(2437-2439)gCa>gTa	p.A813V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	813					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCTCTGCAGCATCGTTATCC	0.522000														160			5		0	0	0.001984	0	0
MYO3A	53904	broad.mit.edu	37	10	26463288	26463288	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	uc001isn.2	+	29	4455	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1365	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|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						GAAGGCAGCAGTTGAGGAAGG	0.438000														97			19		1.96292e-10	2.02504e-10	0.010504	1	0
ZNF17	7565	broad.mit.edu	37	19	57932608	57932608	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	uc002qop.1	+	3	2020	c.1754A>G	c.(1753-1755)aAa>aGa	p.K585R	ZNF17_uc021vck.1_Missense_Mutation_p.K576R|ZNF17_uc002qoo.1_Missense_Mutation_p.K583R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428000														31			9		0	0	0.010729	0	0
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	uc003tme.3	-	0	908	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	Homo sapiens purine-rich element binding protein B (PURB), mRNA.	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587000														212			5		0	0	0.001168	0	0
PHC3	80012	broad.mit.edu	37	3	169815126	169815126	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	uc003fgl.2	-	14	2914	c.2880A>G	c.(2878-2880)ggA>ggG	p.G960G	PHC3_uc010hws.1_Silent_p.G948G	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	948	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448000														104			3		0	0	0.004672	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181078	19181078	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	uc001bba.1	-	2	887	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	296					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.G295G(1)		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)	ATCCACACGGCGCCAGTGAAG	0.637000														43			11		0	0	0.002450	0	0
CLK4	57396	broad.mit.edu	37	5	178045583	178045583	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	uc003mjf.1	-	2	466	c.358C>G	c.(358-360)Cac>Gac	p.H120D	CLK4_uc003mjg.1_Missense_Mutation_p.H84D|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Missense_Mutation_p.H120D|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.H120D|CLK4_uc011dgj.1_Missense_Mutation_p.H120D|CLK4_uc003mji.2_Missense_Mutation_p.H120D	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	120						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTGAACAGTGTCTATTGCGC	0.403000														195			4		0	0	0.009096	0	0
RORB	6096	broad.mit.edu	37	9	77257632	77257632	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	uc004aji.3	+	3	620	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q180*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	191	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACAGATAAAGCAAGAACCTAT	0.468000														60			10		0	0	0.008291	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296193	79296193	+	Silent	SNP	G	A	A	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	uc002beq.3	-	15	2823	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_uc002bep.3_Silent_p.G800G|RASGRF1_uc010blm.1_Silent_p.G725G|RASGRF1_uc002ber.4_Silent_p.G800G|RASGRF1_uc010unh.1_Silent_p.G211G|RASGRF1_uc002beo.3_Silent_p.G32G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	818					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612000														62			5		0	0	0.000602	0	0
ABCA6	23460	broad.mit.edu	37	17	67080574	67080574	+	Splice_Site	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	uc002jhw.1	-	33	4435	c.4260_splice	c.e33+1	p.K1420_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1420	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGCACGTACCTTTCTCGTGAT	0.453000														286			126		0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129923863	129923863	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	uc001lke.3	-	1	264	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_uc001lkf.3_Missense_Mutation_p.S23R|MKI67_uc009yav.1_Missense_Mutation_p.S23R|MKI67_uc009yaw.1_5'UTR	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	23					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTGCTGAGGCTCAGGGGAA	0.517000														104			11		0	0	0.004990	0	0
PCSK5	5125	broad.mit.edu	37	9	78943022	78943022	+	Silent	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78943022C>T	uc004akc.2	+	31	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592000														343			15		0	0	0.004007	0	0
ZFHX3	463	broad.mit.edu	37	16	72827240	72827240	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:72827240G>C	uc002fck.3	-	8	10014	c.9341C>G	c.(9340-9342)gCa>gGa	p.A3114G	ZFHX3_uc002fcl.3_Missense_Mutation_p.A2200G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3114					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCTGGATATGCTGTAGGAAG	0.562000														232			3		0	0	0.004672	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:71347033C>T	uc011cat.2	+	3	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_uc011cau.2_Missense_Mutation_p.A191V|MUC7_uc003hfj.3_Missense_Mutation_p.A191V	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	191	Thr-rich.					extracellular region	protein binding	p.A191V(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000														232			4		0	0	0.009096	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084823	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	uc004fcm.3	+	1	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	127	P-type.					integral to membrane		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373000														22			5		0	0	0.001984	0	0
IL6	3569	broad.mit.edu	37	7	22769188	22769188	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	uc003svj.4	+	3	496	c.380A>T	c.(379-381)gAg>gTg	p.E127V	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.E127V|IL6_uc011jyp.1_Missense_Mutation_p.E51V|IL6_uc011jyq.1_Missense_Mutation_p.E181V	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	127					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GTATACCTAGAGTACCTCCAG	0.458000														65			11		0	0	0.010729	0	0
PCSK5	5125	broad.mit.edu	37	9	78938042	78938042	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78938042C>T	uc004akc.2	+	30	4634	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	631					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGACTCGCGCCACTGTGT	0.567000														16			3		0	0	0.004672	0	0
KDR	3791	broad.mit.edu	37	4	55981079	55981079	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	uc003has.3	-	4	922	c.620A>G	c.(619-621)gAa>gGa	p.E207G	KDR_uc003hat.1_Missense_Mutation_p.E207G|KDR_uc011bzx.2_Missense_Mutation_p.E207G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	207	Ig-like C2-type 2.				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|Hsp90 protein binding|growth factor 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)	CTGGTAACTTTCATCATTAAT	0.373000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				48			3		0	0	0.000602	0	0
PDE6B	5158	broad.mit.edu	37	4	661718	661718	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:661718C>T	uc003gap.3	+	20	2479	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V	PDE6B_uc003gao.4_Missense_Mutation_p.A809V|PDE6B_uc011buy.2_Missense_Mutation_p.A530V|PDE6B_uc011buz.2_Missense_Mutation_p.A241V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	809					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.K808Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GAGTGGAAGGCGCTGGCTGAT	0.562000														181			4		0	0	0.000602	0	0
PTPRH	5794	broad.mit.edu	37	19	55708772	55708772	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	uc002qjq.3	-	8	1776	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_uc010esv.3_Missense_Mutation_p.V390G|PTPRH_uc002qjs.2_Missense_Mutation_p.V575G	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	568	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGATCTGTGACCTCATTGGG	0.552000														77			3		0	0	0.004672	0	0
TGM6	343641	broad.mit.edu	37	20	2411182	2411182	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	uc002wfy.1	+	10	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_uc010gal.1_Missense_Mutation_p.V590A	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	590					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458000														57			4		0	0	0.000602	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	A	A	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	uc002nbh.4	+	7	1027	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	287						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						CGGGCACTGCGTCAGCAGGGG	0.632000														66			21		0	0	0.002780	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									52			23		0	0	0.003330	0	0
FRG2B	441581	broad.mit.edu	37	10	135438832	135438832	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:135438832G>C	uc010qvg.2	-	3	661	c.608C>G	c.(607-609)aCc>aGc	p.T203S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	203						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGCTCACAGGTAAGTGGAGA	0.552000														55			3		0	0	0.004672	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913303	88913303	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	uc002stc.4	-	1	679	c.377A>G	c.(376-378)aAg>aGg	p.K126R		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	126					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353000														95			10		0	0	0.008291	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38643516	38643516	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	uc002ohk.3	+	12	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1190					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATCTCTTGATCCCCACTTCA	0.617000														149			39		0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	uc003tny.2	-	20	3497	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468000														83			3		0	0	0.009096	0	0
MBL2	4153	broad.mit.edu	37	10	54531233	54531233	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	uc001jjt.3	-	0	228	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	55	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537000														81			10		0	0	0.001855	0	0
WDR96	80217	broad.mit.edu	37	10	105990460	105990460	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:105990460G>A	uc001kxw.3	-	1	323	c.207C>T	c.(205-207)ggC>ggT	p.G69G	WDR96_uc001kxx.4_Silent_p.G69G|WDR96_uc001kxy.1_Silent_p.G69G|WDR96_uc001kxz.3_Silent_p.G69G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	69								p.G69G(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCCATGACGCCCACAATTC	0.408000														68			4		0	0	0.000602	0	0
C12orf40	283461	broad.mit.edu	37	12	40076514	40076514	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	uc001rmc.3	+	7	955	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353000														79			3		0	0	0.004672	0	0
MAP1B	4131	broad.mit.edu	37	5	71493611	71493611	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	uc003kbw.4	+	4	4670	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E	MAP1B_uc010iyw.1_Missense_Mutation_p.K1494E|MAP1B_uc010iyx.1_Missense_Mutation_p.K1351E|MAP1B_uc010iyy.1_Missense_Mutation_p.K1351E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1477						microtubule|microtubule associated complex	structural molecule activity	p.K1476N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAGAAAAGAAAACTGATGA	0.403000														32			16		0	0	0.004990	0	0
SBDSP1	155370	broad.mit.edu	37	7	72302248	72302248	+	RNA	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:72302248A>G	uc003twf.3	+	2		c.600A>G			SBDSP1_uc011kel.2_Non-coding_Transcript|SBDSP1_uc003twg.3_Non-coding_Transcript|SBDSP1_uc003twh.3_Non-coding_Transcript					Homo sapiens Shwachman-Bodian-Diamond syndrome pseudogene 1 (SBDSP1), transcript variant 3, non-coding RNA.																		ATGTTTAGGGACATTGCAATT	0.383000														88			3		0	0	0.009096	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885051	12885051	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:12885051T>C	uc001auk.2	-	3	1256	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	354										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTCCAGGGTGGCCATGCAG	0.532000														163			12		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179463964	179463964	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	uc021vsy.1	-	238	49077	c.48852C>T	c.(48850-48852)ggC>ggT	p.G16284G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G9979G|TTN_uc021vta.1_Silent_p.G9912G|TTN_uc021vtb.1_Silent_p.G9787G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17211	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCATGGCCTTCTAGCA	0.428000														118			26		0	0	0.007291	0	0
SCYL3	57147	broad.mit.edu	37	1	169823532	169823532	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	uc001ggs.2	-	12	2246	c.2048T>C	c.(2047-2049)aTt>aCt	p.I683T	SCYL3_uc010plw.1_Missense_Mutation_p.I275T|SCYL3_uc001ggt.2_Missense_Mutation_p.I629T	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	683	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393000														109			6		0	0	0.003080	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598777	62598777	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	uc002yhl.1	-	2	275	c.221A>G	c.(220-222)aAg>aGg	p.K74R		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632000														150			4		0	0	0.000602	0	0
AQPEP	206338	broad.mit.edu	37	5	115298645	115298645	+	Silent	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:115298645C>T	uc003kro.3	+	0	495	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	111					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CGATCTGGAGCTGTGGCCGCA	0.701000														77			17		0	0	0.014323	0	0
C1orf129	80133	broad.mit.edu	37	1	170928725	170928725	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:170928725T>C	uc010plz.2	+	4	429	c.275T>C	c.(274-276)aTt>aCt	p.I92T	C1orf129_uc001ghg.3_Missense_Mutation_p.I92T|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	92							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATGAGTACATTGAGGACATG	0.363000														43			6		0	0	0.003080	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917243	54917243	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	uc001sgc.4	+	18	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_uc010sox.2_Silent_p.R190R|NCKAP1L_uc010soy.2_Silent_p.R598R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	648					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522000														96			6		0	0	0.001168	0	0
ZNF599	148103	broad.mit.edu	37	19	35250972	35250972	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	uc010edn.1	-	3	1122	c.734A>C	c.(733-735)cAt>cCt	p.H245P	ZNF599_uc010edm.2_Missense_Mutation_p.H208P	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	245					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)			AAGCCTCATATGTCGAATGAC	0.488000														92			3		0	0	0.004672	0	0
TNC	3371	broad.mit.edu	37	9	117849482	117849482	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	uc004bjj.4	-	2	940	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_uc010mvf.3_Silent_p.C176C|TNC_uc022bmj.1_Silent_p.C176C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	176	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582000														141			4		0	0	0.009096	0	0
FMN2	56776	broad.mit.edu	37	1	240371430	240371430	+	Silent	SNP	C	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:240371430C>A	uc010pye.2	+	5	3555	c.3330C>A	c.(3328-3330)ggC>ggA	p.G1110G	FMN2_uc010pyd.2_Silent_p.G1106G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1106	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGTGGGCATACCTCCTC	0.731000														249			7		0.000157383	0.000161343	0.003080	1	0
KRT17	3872	broad.mit.edu	37	17	39779208	39779208	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	uc002hxh.2	-	1	630	c.509G>A	c.(508-510)cGc>cAc	p.R170H	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R170H	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	170	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCACTTGGTGCGGAAGTCATC	0.587000														163			7		0	0	0.003080	0	0
PRDM1	639	broad.mit.edu	37	6	106553291	106553291	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	uc003prd.2	+	4	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_uc003pre.3_Missense_Mutation_p.G285D	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	419					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587000			"""D, N, Mis, F, S"""		DLBCL									56			8		0	0	0.006214	0	0
OSBP2	23762	broad.mit.edu	37	22	31137232	31137232	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	uc003aiy.1	+	1	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_uc011ala.1_Missense_Mutation_p.I78M|OSBP2_uc010gwc.1_Missense_Mutation_p.I70M|OSBP2_uc003aix.1_Missense_Mutation_p.I243M|OSBP2_uc011alb.1_Missense_Mutation_p.I243M|OSBP2_uc003aiz.1_Missense_Mutation_p.I243M	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	243	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597000														65			4		0	0	0.009096	0	0
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	uc010pzk.2	-	0	906	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTAAGATTTTCATTAATGCTC	0.403000														52			6		0.000274275	0.000279418	0.004482	1	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071291	3071291	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:3071291C>T	uc002csv.4	+	1	256	c.170C>T	c.(169-171)gCg>gTg	p.A57V	TNFRSF12A_uc002csw.4_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_016639	NP_057723	Q9NP84	TNR12_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 12A (TNFRSF12A), mRNA.	57					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						TCTTGCAGGGCGCGACCGCAC	0.731000														31			5		0	0	0.001168	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818453	192818453	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	uc002utc.3	-	8	1374	c.980G>C	c.(979-981)gGa>gCa	p.G327A		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	327						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428000														66			3		0	0	0.009096	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748802	126748802	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	uc003ejg.3	+	26	4956	c.4956G>C	c.(4954-4956)aaG>aaC	p.K1652N	PLXNA1_uc003ejh.3_Missense_Mutation_p.K297N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCACCAAGCTGTGGCACC	0.657000														110			3		0	0	0.009096	0	0
PHB	5245	broad.mit.edu	37	17	47486775	47486775	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	uc002iox.1	-	3	384	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	104					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512000														137			3		0	0	0.000602	0	0
PCSK5	5125	broad.mit.edu	37	9	78686647	78686647	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	uc004akc.2	+	6	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.R243*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.R243*|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512000														129			4		0	0	0.009096	0	0
CCR7	1236	broad.mit.edu	37	17	38715155	38715155	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	uc002huw.3	-	1	125	c.50T>C	c.(49-51)gTc>gCc	p.V17A		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	17					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498000														48			4		0	0	0.001984	0	0
ASTN2	23245	broad.mit.edu	37	9	119413978	119413978	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	uc004bjt.2	-	15	2849	c.2748C>T	c.(2746-2748)gaC>gaT	p.D916D	ASTN2_uc022bml.1_Silent_p.D612D|ASTN2_uc022bmm.1_Silent_p.D616D|ASTN2_uc004bjp.2_Silent_p.D68D|ASTN2_uc011lxr.2_Silent_p.D19D|ASTN2_uc011lxs.2_Silent_p.D19D|ASTN2_uc011lxt.2_Silent_p.D19D|ASTN2_uc004bjq.2_Silent_p.D19D|ASTN2_uc022bmn.1_Silent_p.D19D	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	967						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAATGAGCTGGTCATCTGACA	0.582000														109			5		0	0	0.001984	0	0
PSG4	5672	broad.mit.edu	37	19	43411958	43411958	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	uc002ovj.1	-	3	854	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E92G|PSG4_uc002ovg.1_Missense_Mutation_p.E252G	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R252H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCCTTCTTCTCCCTGGGGTT	0.502000														219			5		0	0	0.001984	0	0
DCHS1	8642	broad.mit.edu	37	11	6645181	6645181	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	uc001mem.1	-	20	8127	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2576	Cadherin 24.				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)		TGCCCACGGTCAGCTGCAGCC	0.562000														111			5		0	0	0.001984	0	0
TMEM175	84286	broad.mit.edu	37	4	944293	944293	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	uc003gbq.3	+	3	375	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_uc010ibl.1_Missense_Mutation_p.A93P|TMEM175_uc003gbp.1_Missense_Mutation_p.A11P|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_Missense_Mutation_p.A11P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCCTGGGCAGCACACAC	0.597000														92			10		0	0	0.013537	0	0
GATM	2628	broad.mit.edu	37	15	45658331	45658331	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	uc001zvc.3	-	5	1220	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_uc001zvb.3_Silent_p.K168K|GATM_uc010uev.1_Silent_p.K350K	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	297					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428000														59			21		0	0	0.014323	0	0
SYCP1	6847	broad.mit.edu	37	1	115487052	115487052	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	uc001efr.3	+	23	2228	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.I673M|SYCP1_uc009wgw.3_Missense_Mutation_p.I673M	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	673					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGATATCAGAAGAAA	0.279000														23			4		0	0	0.009096	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538754	27538754	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:27538754G>T	uc001its.2	-	0	2482	c.639C>A	c.(637-639)gaC>gaA	p.D213E						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		TAAGCCCCAGGTCCAAAGGTT	0.502000														150			23		5.61819e-17	5.8329e-17	0.005443	1	0
EXPH5	23086	broad.mit.edu	37	11	108381248	108381248	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	uc001pkk.3	-	5	5097	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_uc010rvz.2_Silent_p.N1506N|EXPH5_uc010rvy.2_Silent_p.N1474N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1662					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473000														187			7		0	0	0.003080	0	0
ITPR2	3709	broad.mit.edu	37	12	26985677	26985677	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	uc001rhg.3	-	0	455	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_uc001rhh.1_5'UTR|ITPR2_uc001rhi.1_Missense_Mutation_p.D13G	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	13					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGACACGATGTCCCCTATGTA	0.622000														104			3		0	0	0.009096	0	0
PI15	51050	broad.mit.edu	37	8	75737530	75737530	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	uc003yal.3	+	1	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.L16F	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	16						extracellular region	peptidase inhibitor activity	p.L16I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463000														256			9		0	0	0.006214	0	0
ISYNA1	51477	broad.mit.edu	37	19	18545911	18545911	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	uc002njd.2	-	10	1707	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_uc002nja.2_Missense_Mutation_p.P369S|ISYNA1_uc002njb.2_Missense_Mutation_p.P415S|ISYNA1_uc002njc.2_Missense_Mutation_p.P347S|ISYNA1_uc010xqh.2_Missense_Mutation_p.P295S|ISYNA1_uc002nje.2_Missense_Mutation_p.P443S	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	497					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627000														57			3		0	0	0.004672	0	0
C17orf47	284083	broad.mit.edu	37	17	56620229	56620229	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	uc002iwq.2	-	0	1505	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	440										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCTGGCTTTGGGGTGT	0.507000														72			43		0	0	0.014410	0	0
UTY	7404	broad.mit.edu	37	Y	15522901	15522901	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	uc022ckf.1	-	5	1532	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_uc022cjp.1_5'UTR|UTY_uc022ckv.1_Missense_Mutation_p.V176A|UTY_uc022cjq.1_Missense_Mutation_p.V176A|UTY_uc022ckw.1_Missense_Mutation_p.V176A|UTY_uc022cjr.1_Missense_Mutation_p.V176A|UTY_uc022ckx.1_Missense_Mutation_p.V176A|UTY_uc022cjs.1_Missense_Mutation_p.V176A|UTY_uc022cky.1_Missense_Mutation_p.V4A|UTY_uc022cjt.1_5'UTR|UTY_uc022ckz.1_5'UTR|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_5'UTR|UTY_uc022cjv.1_Missense_Mutation_p.V123A|UTY_uc022clb.1_5'UTR|UTY_uc022cjw.1_Missense_Mutation_p.V176A|UTY_uc022cjx.1_Missense_Mutation_p.V176A|UTY_uc022cjy.1_Intron|UTY_uc022cjz.1_Missense_Mutation_p.V176A|UTY_uc022cka.1_Non-coding_Transcript|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_5'UTR|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Missense_Mutation_p.V176A|UTY_uc022ckh.1_5'UTR|UTY_uc022cki.1_Missense_Mutation_p.V176A|UTY_uc022ckj.1_Missense_Mutation_p.V176A|UTY_uc022ckk.1_Missense_Mutation_p.V176A|UTY_uc022ckl.1_5'UTR|UTY_uc022ckm.1_Missense_Mutation_p.V176A|UTY_uc022ckn.1_Missense_Mutation_p.V176A|UTY_uc022cko.1_Missense_Mutation_p.V176A|UTY_uc022ckp.1_Missense_Mutation_p.V176A|UTY_uc004fsx.1_Missense_Mutation_p.V176A|UTY_uc022ckq.1_Missense_Mutation_p.V176A|UTY_uc022cjl.1_5'UTR|UTY_uc022ckr.1_5'UTR|UTY_uc022cjm.1_Missense_Mutation_p.V176A|UTY_uc022cks.1_Missense_Mutation_p.V176A|UTY_uc022cjn.1_5'UTR|UTY_uc022ckt.1_Missense_Mutation_p.V176A|UTY_uc022cjo.1_5'UTR|UTY_uc022cku.1_5'UTR|UTY_uc022clc.1_Missense_Mutation_p.V176A|UTY_uc022cld.1_Missense_Mutation_p.V176A|UTY_uc022cle.1_5'UTR|UTY_uc022clf.1_Missense_Mutation_p.V176A|UTY_uc022clg.1_5'UTR|UTY_uc022clh.1_Missense_Mutation_p.V176A|UTY_uc022cli.1_Missense_Mutation_p.V176A|UTY_uc022clj.1_5'UTR|UTY_uc022clk.1_5'UTR|UTY_uc022cll.1_Missense_Mutation_p.V4A|UTY_uc022clm.1_5'UTR|UTY_uc022cln.1_5'UTR|UTY_uc022clo.1_Missense_Mutation_p.V176A|UTY_uc022clp.1_Missense_Mutation_p.V4A|UTY_uc022clq.1_Missense_Mutation_p.V176A|UTY_uc004fsy.3_Missense_Mutation_p.V176A|UTY_uc022clr.1_5'UTR|UTY_uc022cls.1_Missense_Mutation_p.V176A|UTY_uc022clt.1_5'UTR|UTY_uc022clu.1_Missense_Mutation_p.V176A|UTY_uc022clv.1_5'UTR|UTY_uc022clw.1_Missense_Mutation_p.V176A|UTY_uc022clx.1_Missense_Mutation_p.V176A|UTY_uc022cly.1_Missense_Mutation_p.V176A|UTY_uc022clz.1_5'UTR|UTY_uc022cma.1_5'UTR|UTY_uc022cmb.1_5'UTR|UTY_uc022cng.1_Missense_Mutation_p.V176A|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Missense_Mutation_p.V176A|UTY_uc022cmc.1_Non-coding_Transcript|UTY_uc022cmd.1_5'UTR|UTY_uc022cme.1_Non-coding_Transcript|UTY_uc022cmf.1_5'UTR|UTY_uc022cmg.1_Missense_Mutation_p.V176A|UTY_uc022cmh.1_Missense_Mutation_p.V176A|UTY_uc022cmi.1_5'UTR|UTY_uc022cmj.1_Missense_Mutation_p.V176A|UTY_uc022cmk.1_5'UTR|UTY_uc022cml.1_Missense_Mutation_p.V176A|UTY_uc022cmm.1_Missense_Mutation_p.V176A|UTY_uc022cmn.1_Missense_Mutation_p.V176A|UTY_uc022cmo.1_5'UTR|UTY_uc022cmp.1_Non-coding_Transcript|UTY_uc022cmq.1_Non-coding_Transcript|UTY_uc022cmr.1_Missense_Mutation_p.V176A|UTY_uc022cms.1_Missense_Mutation_p.V176A|UTY_uc022cmt.1_Missense_Mutation_p.V176A|UTY_uc022cmu.1_Missense_Mutation_p.V176A|UTY_uc022cmv.1_Missense_Mutation_p.V176A|UTY_uc022cmw.1_5'UTR|UTY_uc022cmx.1_5'UTR|UTY_uc022cmy.1_5'UTR|UTY_uc022cmz.1_5'UTR|UTY_uc022cna.1_Missense_Mutation_p.V4A|UTY_uc022cnb.1_5'UTR|UTY_uc022cnc.1_5'UTR|UTY_uc022cnd.1_Missense_Mutation_p.V176A|UTY_uc022cne.1_Non-coding_Transcript|UTY_uc022cnf.1_Missense_Mutation_p.V176A|UTY_uc022cni.1_5'UTR|UTY_uc022cnj.1_5'UTR|UTY_uc022cnk.1_Missense_Mutation_p.V176A|UTY_uc022cnl.1_Missense_Mutation_p.V176A|UTY_uc022cnm.1_Missense_Mutation_p.V176A|UTY_uc022cnn.1_Missense_Mutation_p.V176A|UTY_uc022cno.1_Missense_Mutation_p.V176A|UTY_uc022cnp.1_Missense_Mutation_p.V176A|UTY_uc022cnq.1_Missense_Mutation_p.V176A|UTY_uc022cnr.1_5'UTR|UTY_uc022cns.1_Missense_Mutation_p.V176A|UTY_uc022cnt.1_5'UTR|UTY_uc022cnu.1_Missense_Mutation_p.V176A|UTY_uc022cnv.1_Missense_Mutation_p.V176A|UTY_uc022cnw.1_Missense_Mutation_p.V176A|UTY_uc022cnx.1_5'UTR|UTY_uc022cny.1_Intron|UTY_uc022cnz.1_Non-coding_Transcript|UTY_uc022coa.1_Missense_Mutation_p.V176A|UTY_uc022cob.1_5'UTR|UTY_uc022coc.1_5'UTR|UTY_uc022cod.1_5'UTR	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	176					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413000														29			18		0	0	0.010504	0	0
MXD1	4084	broad.mit.edu	37	2	70164431	70164431	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	uc002sfy.3	+	4	673	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_uc010yqp.2_Missense_Mutation_p.H128L|MXD1_uc010yqs.2_Missense_Mutation_p.H118L|MXD1_uc010yqq.2_Missense_Mutation_p.H65L|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	128					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577000														113			5		0	0	0.000602	0	0
NUP188	23511	broad.mit.edu	37	9	131760453	131760453	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	uc004bws.1	+	30	3397	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E	NUP188_uc004bwu.3_Missense_Mutation_p.D468E	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1125					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGACTGACTCTGTGGTGC	0.463000														266			4		0	0	0.000602	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589373	138589373	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	uc010nbe.3	-	3	507	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_uc004cgl.3_Missense_Mutation_p.T149M	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	149					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.T149T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGACGCTCCCGTCCCAGGGTC	0.597000														41			3		0	0	0.009096	0	0
CHD8	57680	broad.mit.edu	37	14	21861840	21861840	+	Silent	SNP	T	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	uc001war.2	-	30	6179	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_uc001was.2_Silent_p.P1759P|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2038					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547000														51			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179431332	179431332	+	Silent	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	uc021vsy.1	-	274	72048	c.71823T>C	c.(71821-71823)ggT>ggC	p.G23941G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G17636G|TTN_uc021vta.1_Silent_p.G17569G|TTN_uc021vtb.1_Silent_p.G17444G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24868	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGGGTTTACCCCAGGCAA	0.433000														191			4		0	0	0.009096	0	0
COL20A1	57642	broad.mit.edu	37	20	61960983	61960983	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	uc011aau.2	+	34	3928	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G	COL20A1_uc011aav.2_Silent_p.G1103G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1276					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCAGCAGGGGGCTAGCACCC	0.662000														21			4		0	0	0.009096	0	0
PCNX	22990	broad.mit.edu	37	14	71492954	71492954	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	uc001xmo.2	+	13	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_uc010are.1_Missense_Mutation_p.I991L|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1102						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTATATGGAATAACTTTCAC	0.338000														23			3		0	0	0.004672	0	0
CUL4A	8451	broad.mit.edu	37	13	113891149	113891149	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	uc021rmv.1	+	8	872	c.861T>C	c.(859-861)atT>atC	p.I287I	CUL4A_uc021rmu.1_Silent_p.I187I|CUL4A_uc010agu.3_Silent_p.I148I|CUL4A_uc010tjz.2_5'UTR	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	287					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACCACTGATTGCTTGTGTGG	0.358000														56			3		0	0	0.000602	0	0
TG	7038	broad.mit.edu	37	8	133912511	133912511	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	uc003ytw.3	+	14	3401	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_uc010mdw.3_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1120	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAGGCATCGGGGGCTGGCA	0.622000														48			5		0	0	0.001168	0	0
PDE8A	5151	broad.mit.edu	37	15	85619979	85619979	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	uc002blh.3	+	4	696	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_uc021stv.1_Missense_Mutation_p.E97D|PDE8A_uc002bli.3_Missense_Mutation_p.E169D|PDE8A_uc010bnc.3_5'UTR|PDE8A_uc010bnd.3_5'UTR|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	169					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATAGAGAAGAGTTGTCCGTAA	0.294000														107			10		0	0	0.001855	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181967	32181967	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:32181967A>G	uc003obb.3	-	12	2226	c.2087T>C	c.(2086-2088)aTc>aCc	p.I696T	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	696	EGF-like 18.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTGCAGAGATGCAGCCCCC	0.587000														184			4		0	0	0.001984	0	0
TRIM24	8805	broad.mit.edu	37	7	138268733	138268733	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	uc003vuc.3	+	17	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_uc003vub.3_Missense_Mutation_p.E944K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	978	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388000														60			3		0	0	0.009096	0	0
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	uc003nkt.3	+	0	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537000														148			4		0	0	0.009096	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58254315	58254315	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	uc002aex.3	-	9	1419	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_uc010ugv.2_Silent_p.G361G|ALDH1A2_uc002aey.3_Silent_p.G344G|ALDH1A2_uc010ugw.2_Silent_p.G353G|ALDH1A2_uc002aew.3_Silent_p.G286G	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	382					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473000														91			4		0	0	0.009096	0	0
PTPN4	5775	broad.mit.edu	37	2	120709680	120709680	+	Silent	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	uc002tmf.1	+	18	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_uc010flj.1_Silent_p.E309E|PTPN4_uc010yyr.1_Silent_p.E229E	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	596						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403000														99			6		0	0	0.003080	0	0
DDX43	55510	broad.mit.edu	37	6	74124393	74124393	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	uc003pgw.3	+	13	2073	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAATAGGGCGCACGGGAAG	0.428000														105			4		0	0	0.009096	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124392	31124392	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	uc003tca.2	+	7	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G160A|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G160A|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G139A|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G160A|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	160					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACACGGTTGGCTACAGCACA	0.562000														189			5		0	0	0.003080	0	0
TPX2	22974	broad.mit.edu	37	20	30388772	30388772	+	Splice_Site	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	uc002wwp.1	+	18	2832	c.2134_splice	c.e18-1	p.V712_splice	TPX2_uc010gdv.1_Splice_Site_p.V748_splice	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	712					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)			TTACTTTGCAGGTGCATAAGG	0.398000														142			9		0	0	0.008291	0	0
CWH43	80157	broad.mit.edu	37	4	49000535	49000535	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	uc003gyv.3	+	5	954	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_uc011bzl.2_Missense_Mutation_p.R231G	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	258					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443000														126			11		0	0	0.010729	0	0
GRB10	2887	broad.mit.edu	37	7	50686969	50686969	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	uc003tpi.2	-	5	721	c.675A>G	c.(673-675)gaA>gaG	p.E225E	GRB10_uc003tph.3_Silent_p.E167E|GRB10_uc003tpj.2_Silent_p.E225E|GRB10_uc003tpk.2_Silent_p.E225E|GRB10_uc010kzb.2_Silent_p.E167E|GRB10_uc003tpl.2_Silent_p.E219E|GRB10_uc003tpm.2_Silent_p.E167E	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	225	Ras-associating.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443000									Russell-Silver syndrome					101			5		0	0	0.003080	0	0
PSG4	5672	broad.mit.edu	37	19	43414761	43414761	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43414761C>T	uc002ovj.1	-	2	776	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.R226H	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	227	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.522000														286			19		0	0	0.002780	0	0
INTS9	55756	broad.mit.edu	37	8	28625815	28625815	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	uc003xha.3	-	16	2124	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	INTS9_uc011lav.2_Missense_Mutation_p.E585Q|INTS9_uc011law.2_Missense_Mutation_p.E588Q|INTS9_uc011lax.2_Missense_Mutation_p.E502Q|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	609					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502000														170			10		0	0	0.010729	0	0
BDP1	55814	broad.mit.edu	37	5	70806830	70806830	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	uc003kbp.1	+	16	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_uc003kbn.1_Missense_Mutation_p.K1304R|BDP1_uc003kbo.3_Missense_Mutation_p.K1304R	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393000														57			3		0	0	0.004672	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052514	48052514	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	uc010bek.3	+	2	483	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_uc001zvw.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvx.1_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvy.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvz.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwa.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwb.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwc.3_Nonsense_Mutation_p.Y41*	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	41	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGGCAATATCCGGTTTTTA	0.418000														53			3		0	0	0.009096	0	0
IGH	0	broad.mit.edu	37	16	33020762	33020762	+	RNA	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:33020762G>A	uc021thd.1	+	0		c.110G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		AGCTGGGTCCGCCAGGCTCCA	0.562000														312			50		0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535297	96535297	+	Splice_Site	SNP	G	C	C	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	uc010qnz.2	+	3	481	c.481_splice	c.e3+1	p.A161_splice	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Splice_Site_p.A139_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	161			A -> P.		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACCAAGGGTGGGTGAACA	0.498000														150			9		0	0	0.010729	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466990	50466990	+	Missense_Mutation	SNP	T	C	C	rs144184696	by1000genomes	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:50466990T>C	uc001vdk.2	+	0	2446	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTCTGTCCACTGAGGGGTTTT	0.517000														72			5		0	0	0.001168	0	0
AGL	178	broad.mit.edu	37	1	100353559	100353559	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	uc001dsi.1	+	20	3107	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_uc001dsj.1_Missense_Mutation_p.E903K|AGL_uc001dsk.1_Missense_Mutation_p.E903K|AGL_uc001dsl.1_Missense_Mutation_p.E903K|AGL_uc001dsm.1_Missense_Mutation_p.E887K|AGL_uc001dsn.1_Missense_Mutation_p.E886K	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	903					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373000														44			5		0	0	0.001168	0	0
RLF	6018	broad.mit.edu	37	1	40702367	40702367	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	uc001cfc.4	+	7	2024	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V	RLF_uc001cfd.4_Missense_Mutation_p.L356V	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	665					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATTGCCACCTGCAAGACAG	0.418000														88			39		0	0	0.014410	0	0
DCHS1	8642	broad.mit.edu	37	11	6645159	6645159	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	uc001mem.1	-	20	8149	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2583	Cadherin 24.				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)		CACGACTGAGCTTTGGGGTGG	0.537000														163			9		0	0	0.006214	0	0
ARID1B	57492	broad.mit.edu	37	6	157522373	157522373	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	uc003qqp.3	+	16	4606	c.4606C>G	c.(4606-4608)Cac>Gac	p.H1536D	ARID1B_uc003qqo.3_Missense_Mutation_p.H1549D|ARID1B_uc003qqn.3_Missense_Mutation_p.H1589D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1536	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597000														106			5		0	0	0.001168	0	0
TREML2	79865	broad.mit.edu	37	6	41160191	41160191	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	uc010jxm.1	-	4	1119	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	314					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587000														38			6		0	0	0.001984	0	0
CAP2	10486	broad.mit.edu	37	6	17421817	17421817	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	uc003ncb.3	+	1	274	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.L11V|CAP2_uc011djb.2_Missense_Mutation_p.L11V|CAP2_uc011djc.2_Missense_Mutation_p.L11V|CAP2_uc011djd.2_Missense_Mutation_p.L11V	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	11					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567000														123			4		0	0	0.009096	0	0
RNF6	6049	broad.mit.edu	37	13	26788671	26788671	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	uc001uqo.3	-	4	1693	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.R450W|RNF6_uc001uqq.3_Missense_Mutation_p.R450W|RNF6_uc010tdk.2_Missense_Mutation_p.R94W	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	450					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.R450W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438000														68			3		0	0	0.009096	0	0
NEK4	6787	broad.mit.edu	37	3	52802575	52802575	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	uc003dfq.4	-	1	342	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_uc011bej.2_Intron|NEK4_uc003dfr.3_Missense_Mutation_p.R47W	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	47	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E46*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453000														106			5		0	0	0.003080	0	0
MC4R	4160	broad.mit.edu	37	18	58038877	58038877	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	uc002lie.1	-	0	1125	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	236					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	p.R236R(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517000														48			11		0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152323513	152323513	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	uc001ezw.4	-	2	6822	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2250							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)			AGATCCCCTTCTTCCAGTTGT	0.522000														638			14		0	0	0.007413	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177705	70177705	+	Silent	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:70177705C>T	uc010moc.3	-	0	1111	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P93P(3)		endometrium(5)|lung(2)	7						CAGACCTTGGCGGTGCCCTGA	0.677000														270			5		0	0	0.001984	0	0
ITGAM	3684	broad.mit.edu	37	16	31308840	31308840	+	Silent	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	uc002ebr.3	+	12	1460	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_uc002ebq.3_Silent_p.G454G|ITGAM_uc010cam.1_Missense_Mutation_p.R58C|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582000														228			6		0	0	0.003080	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085129	153085129	+	Silent	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	uc001fbi.3	-	1	140	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Silent_p.C27C	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGGGTGGACATGGCTCTG	0.607000														333			6		0	0	0.001168	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846954	28846954	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	uc002dqy.3	+	20	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.P924A|ATXN2L_uc002dra.3_Missense_Mutation_p.P924A|ATXN2L_uc002drb.3_Missense_Mutation_p.P924A|ATXN2L_uc002drc.3_Missense_Mutation_p.P924A|ATXN2L_uc010vdb.2_Missense_Mutation_p.P930A|ATXN2L_uc002dre.3_Missense_Mutation_p.P924A|ATXN2L_uc002drf.3_Missense_Mutation_p.P333A|ATXN2L_uc002drg.3_Missense_Mutation_p.P207A	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	924						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677000														61			5		0	0	0.000602	0	0
X97876	0	broad.mit.edu	37	9	66500808	66500808	+	RNA	SNP	T	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:66500808T>G	uc004aed.1	+	2		c.901T>G								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCACCTACGGTCGGTTGTGTG	0.632000														26			6		0	0	0.001168	0	0
SNRNP40	9410	broad.mit.edu	37	1	31744294	31744294	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	uc010oge.2	-	5	753	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_uc009vtt.3_5'Flank|SNRNP40_uc001bso.3_Missense_Mutation_p.D236G	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	236						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448000														51			7		0	0	0.001984	0	0
FAM182B	728882	broad.mit.edu	37	20	25848629	25848629	+	RNA	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:25848629C>T	uc002wvd.1	-	0		c.158G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						gctgggatgccgtgctgcttc	0.667000														6			3		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13792273	13792273	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	uc003jfd.2	-	49	8320	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2760	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATCTCTCACTTCTTCT	0.423000									Kartagener syndrome					55			3		0	0	0.009096	0	0
FRMD7	90167	broad.mit.edu	37	X	131212491	131212491	+	Silent	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	uc004ewn.3	-	11	1732	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_uc022cdy.1_Silent_p.S398S|FRMD7_uc011muy.2_Silent_p.S503S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	518					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493000														84			3		0	0	0.009096	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124371	31124371	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124371T>C	uc003tca.2	+	7	747	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.V153A|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.V153A|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.V132A|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.V153A|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	153					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACCTGTCAGTGAAGGCCCTC	0.567000														171			4		0	0	0.001984	0	0
TMCC1	23023	broad.mit.edu	37	3	129547187	129547187	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	uc021xdy.1	-	2	469	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	12						integral to membrane		p.E11K(1)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATCAGGGTCCTCAAATAA	0.393000														130			5		0	0	0.004482	0	0
ANTXR1	84168	broad.mit.edu	37	2	69297779	69297779	+	Splice_Site	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	uc002sfg.3	+	4	653	c.297_splice	c.e4-1	p.R99_splice	ANTXR1_uc002sfe.3_Splice_Site_p.R99_splice|ANTXR1_uc002sff.3_Splice_Site_p.R99_splice|ANTXR1_uc002sfd.2_Splice_Site_p.R99_splice	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	99	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378000									Familial Infantile Hemangioma					63			3		0	0	0.009096	0	0
CD1E	913	broad.mit.edu	37	1	158325321	158325321	+	Missense_Mutation	SNP	G	A	A	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	uc001fse.3	+	2	880	c.587G>A	c.(586-588)gGg>gAg	p.G196E	CD1E_uc010pid.2_Missense_Mutation_p.G194E|CD1E_uc010pie.2_Missense_Mutation_p.G97E|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G196E|CD1E_uc001fsf.3_Missense_Mutation_p.G196E|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.G97E|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G196E|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	196	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.G196E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473000														38			4		0	0	0.001984	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859423	149859423	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	uc001ete.3	-	0	44	c.44C>G	c.(43-45)gCc>gGc	p.A15G	HIST2H2BE_uc001etc.3_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	Homo sapiens histone cluster 2, H2ab (HIST2H2AB), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGACTTGGCCTTAGCGCG	0.602000														164			4		0	0	0.001168	0	0
CPXM2	119587	broad.mit.edu	37	10	125557566	125557566	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:125557566C>T	uc001lhk.1	-	5	1140	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	272	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTTTATGCGGATGTAGCG	0.517000														52			11		0	0	0.001855	0	0
NPHS1	4868	broad.mit.edu	37	19	36340183	36340183	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	uc002oby.3	-	6	951	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	265	Ig-like C2-type 3.		C -> R (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGCCACGCACGGCAGCT	0.657000														31			13		0	0	0.002450	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884337	143884337	+	Silent	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	uc003wdz.2	-	1	1313	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_uc022aog.1_Silent_p.E380E	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557000														76			10		0	0	0.013537	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)				37			52		0	0	0.014410	0	0
KRI1	65095	broad.mit.edu	37	19	10671046	10671046	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	uc002moy.1	-	8	769	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R250C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	254	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tcctcATAGCGTTTGTTGAGG	0.552000														50			6		0	0	0.003080	0	0
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:186276366G>A	uc001gru.4	+	6	1566	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.E464E|PRG4_uc009wyl.3_Silent_p.E412E|PRG4_uc009wym.3_Silent_p.E371E|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647000														111			4		0	0	0.009096	0	0
PTK2	5747	broad.mit.edu	37	8	141889587	141889587	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:141889587G>A	uc003yvu.3	-	3	655	c.345C>T	c.(343-345)caC>caT	p.H115H	PTK2_uc003yvr.3_Silent_p.H14H|PTK2_uc003yvs.3_Silent_p.H115H|PTK2_uc011ljr.2_Silent_p.H115H|PTK2_uc003yvt.3_Silent_p.H137H|PTK2_uc003yvv.3_Intron	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	115	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCTCTGGTGGGTGAGCAAGCT	0.463000														203			4		0	0	0.000602	0	0
ZNF207	7756	broad.mit.edu	37	17	30696691	30696691	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	uc010csz.3	+	12	1754	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	ZNF207_uc002hhj.4_Silent_p.P466P|ZNF207_uc002hhh.4_Silent_p.P450P|ZNF207_uc002hhi.4_Silent_p.P435P|ZNF207_uc002hhk.1_Silent_p.P466P|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527000														57			7		0	0	0.001984	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533183	47533183	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	uc001cqu.1	+	0	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	7						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522000														16			11		0	0	0.008291	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914407	111914407	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	uc004epp.3	-	0	354	c.281C>G	c.(280-282)gCc>gGc	p.A94G	LHFPL1_uc004epq.3_Missense_Mutation_p.A71G|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.A71G	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	71						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592000														57			3		0	0	0.004672	0	0
TRIM9	114088	broad.mit.edu	37	14	51446210	51446210	+	Silent	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	uc001wyx.4	-	8	2730	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_uc001wyy.2_Silent_p.R736R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	655	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAAGTTTTTTCTATTTAAGT	0.453000														186			11		0	0	0.002450	0	0
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	uc002hwk.1	-	3	779	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622000														58			5		0	0	0.003080	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896273	151896273	+	RNA	SNP	C	T	T	rs2471768	by1000genomes	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:151896273C>T	uc004fgb.3	-	3		c.506G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAAGCGGCGGTCTTTTAG	0.502000														33			3		0	0	0.000602	0	0
ASXL3	80816	broad.mit.edu	37	18	31325552	31325552	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	uc010dmg.1	+	11	5795	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H	ASXL3_uc002kxq.2_Missense_Mutation_p.D1621H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1914					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						ATTTCATGTTGACAAGAATGG	0.532000														105			4		0	0	0.001984	0	0
SUPT16H	11198	broad.mit.edu	37	14	21838616	21838616	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	uc001wao.2	-	3	701	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	121					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)		GGCTTCAATCATTTTGTCAAA	0.383000														53			4		0	0	0.000602	0	0
CPD	1362	broad.mit.edu	37	17	28706125	28706125	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	uc002hfb.2	+	0	184	c.127A>G	c.(127-129)Act>Gct	p.T43A	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	43	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706000														2			2		0	0	0.004672	0	0
SLC26A11	284129	broad.mit.edu	37	17	78199637	78199637	+	Splice_Site	SNP	A	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	uc002jyb.2	+	6	820	c.514_splice	c.e6-1	p.N172_splice	SLC26A11_uc002jyc.2_Splice_Site_p.N172_splice|SLC26A11_uc002jyd.2_Splice_Site_p.N172_splice|SLC26A11_uc010dhv.2_Splice_Site_p.N172_splice	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	172						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGACAGAACCTGCTGGGA	0.587000														135			19		0	0	0.003330	0	0
HOXC4	3221	broad.mit.edu	37	12	54447735	54447735	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	uc001seu.3	+	2	709	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_uc001sex.3_Missense_Mutation_p.S10C	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423000														70			10		0	0	0.006214	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824603	96824603	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	uc001kkb.3	-	3	691	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_uc010qoa.2_Missense_Mutation_p.K129I|CYP2C8_uc010qoc.2_Missense_Mutation_p.K97I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.K113I|CYP2C8_uc021pwl.1_Missense_Mutation_p.K129I|CYP2C8_uc010qod.1_Missense_Mutation_p.K113I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	199					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408000														64			4		0	0	0.009096	0	0
BTD	686	broad.mit.edu	37	3	15686764	15686764	+	Silent	SNP	C	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	uc011avv.2	+	3	1495	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	BTD_uc003cah.3_Silent_p.G467G|BTD_uc011avw.2_Silent_p.G469G|BTD_uc011avx.2_Silent_p.G447G	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	467					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507000														121			4		0.00909568	0.00920867	0.009096	1	0
IFNA7	3444	broad.mit.edu	37	9	21201904	21201904	+	Silent	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	uc003zop.1	-	0	301	c.261C>T	c.(259-261)acC>acT	p.T87T	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	87					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478000														67			3		0	0	0.004672	0	0
SORL1	6653	broad.mit.edu	37	11	121429381	121429381	+	Silent	SNP	G	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	uc001pxx.3	+	19	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	915					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTATCACCTGGTGTCTGAGG	0.532000														200			8		0	0	0.004482	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313391	1313391	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	uc003mtl.4	+	0	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	151					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652000														65			4		0	0	0.009096	0	0
TRIM15	89870	broad.mit.edu	37	6	30138337	30138337	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	uc010jrx.3	+	4	1270	c.791T>C	c.(790-792)aTc>aCc	p.I264T		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	264					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483000														89			3		0	0	0.009096	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646621	19646621	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	uc002gwk.3	-	1	331	c.68C>T	c.(67-69)gCg>gTg	p.A23V	ALDH3A1_uc010cqu.3_Silent_p.G106G|ALDH3A1_uc010vzd.2_Silent_p.G106G|ALDH3A1_uc002gwj.3_Silent_p.G106G|ALDH3A1_uc010cqv.3_Silent_p.G106G|ALDH3A1_uc002gwl.1_Silent_p.G33G			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	0					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CGAGGACCACGCCCAGTGGCT	0.627000														80			4		0	0	0.000602	0	0
PDZD2	23037	broad.mit.edu	37	5	32090257	32090257	+	Missense_Mutation	SNP	C	T	T	rs147353592		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	uc003jhl.3	+	19	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_uc003jhm.3_Missense_Mutation_p.R2235W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2235					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R2235W(2)|p.R2235L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632000														360			40		0	0	0.014410	0	0
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	uc001bmv.1	+	15	4345	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324*(2)|p.Y1324fs*1(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAGCCGCTACCCCCCgcagc	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	131	---	---	23	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:165177332_165177334delTGC	uc001gcz.2	-	6	977_979	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_uc021pdz.1_In_Frame_Del_p.261_262QQ>Q|LMX1A_uc021pdy.1_In_Frame_Del_p.12_13QQ>Q|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	261	Gln-rich.|Poly-Gln.					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)					CTGCTGATCTTGCTGCTGCTGCT	0.567													---	84	---	---	8	---					
CAD	790	broad.mit.edu	37	2	27462334	27462334	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	uc002rji.3	+	32	5551	c.5389delG	c.(5389-5391)gggfs	p.G1797fs	CAD_uc010eyw.3_Frame_Shift_Del_p.G1734fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1797	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTATATCGATGGGCAGGTACG	0.567													---	69	---	---	25	---					
FBN2	2201	broad.mit.edu	37	5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	uc003kuu.3	-	6	1362_1365	c.923_926delAACA	c.(922-927)aaacagfs	p.K308fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.K275fs|FBN2_uc003kuw.4_Frame_Shift_Del_p.K308fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	308	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTTCACTCTGTTTGTGACCAGC	0.426													---	75	---	---	16	---					
TRDN	10345	broad.mit.edu	37	6	123759208	123759209	+	Splice_Site	INS	-	T	T			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	uc003pzj.2	-	12	1369	c.1051_splice	c.e12+1	p.E351_splice	TRDN_uc003pzk.2_Splice_Site_p.E352_splice|AL832096_uc003pzm.1_5'Flank	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	351					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337													---	7	---	---	4	---					
EPB41L2	2037	broad.mit.edu	37	6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	uc003qch.2	-	4	1020_1023	c.838_841delAAGA	c.(838-843)aagagafs	p.K280fs	EPB41L2_uc010kfl.2_Frame_Shift_Del_p.K280fs|EPB41L2_uc003qcg.1_Frame_Shift_Del_p.K280fs|EPB41L2_uc003qci.3_Frame_Shift_Del_p.K280fs|EPB41L2_uc011eby.2_Frame_Shift_Del_p.K280fs|EPB41L2_uc010kfk.2_Frame_Shift_Del_p.K280fs	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	280	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284													---	39	---	---	16	---					
NCOA4	8031	broad.mit.edu	37	10	51585027	51585029	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	uc001jis.4	+	7	1329_1331	c.1126_1128delAAG	c.(1126-1128)aagdel	p.K377del	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_In_Frame_Del_p.K393del|NCOA4_uc010qhd.2_In_Frame_Del_p.K393del|NCOA4_uc010qhe.2_In_Frame_Del_p.K277del|NCOA4_uc010qhf.2_In_Frame_Del_p.K211del|NCOA4_uc001jit.3_In_Frame_Del_p.K377del|NCOA4_uc009xoo.3_In_Frame_Del_p.K377del	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	377					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid								---	22	---	---	13	---					
ARID5B	84159	broad.mit.edu	37	10	63845531	63845531	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	uc001jlt.2	+	8	1726	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K181fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	424					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAACCTCGGAAACAGGAGAA	0.358													---	92	---	---	58	---					
KIAA0913	23053	broad.mit.edu	37	10	75557692	75557693	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:75557692_75557693delAG	uc001jvj.3	+	18	4056_4057	c.3801_3802delAG	c.(3799-3804)tcagggfs	p.S1267fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.S1272fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S1267fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S1267fs|KIAA0913_uc001jvh.3_Splice_Site|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S702fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S690fs|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1267							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CATCTTCCTCAGGGGGCCACCA	0.564													---	211	---	---	30	---					
CDON	50937	broad.mit.edu	37	11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	uc009zbw.3	-	2	383_384	c.255_256delTT	c.(253-258)ctttctfs	p.L85fs	CDON_uc001qdc.4_Frame_Shift_Del_p.L85fs|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Frame_Shift_Del_p.L85fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GAGTTGAGAGAAAGAATTGTCA	0.475													---	74	---	---	19	---					
PTPRR	5801	broad.mit.edu	37	12	71050530	71050532	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	uc001swi.2	-	12	2246_2248	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_In_Frame_Del_p.E366del|PTPRR_uc009zrs.3_In_Frame_Del_p.E405del|PTPRR_uc010stq.2_In_Frame_Del_p.E499del	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	611	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCACAACTCCTTCTTCTTTCAG	0.433													---	159	---	---	43	---					
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAAGCTTACCTTTTTTTCATT	0.333													---	16	---	---	7	---					
C14orf37	145407	broad.mit.edu	37	14	58605972	58605974	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	uc010tro.2	-	2	415_417	c.217_219delAGG	c.(217-219)aggdel	p.R73del	C14orf37_uc001xdc.3_In_Frame_Del_p.R35del|C14orf37_uc001xdd.3_In_Frame_Del_p.R35del|C14orf37_uc001xde.3_In_Frame_Del_p.R35del	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	35						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478													---	110	---	---	36	---					
TRAF4	9618	broad.mit.edu	37	17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	uc002hcs.3	+	6	1393_1394	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_uc002hcq.1_Splice_Site_p.S155_splice	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	429	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554													---	92	---	---	8	---					
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	uc010dxp.3	+	10	1991_1993	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	546					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC								---	146	---	---	29	---					
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:13065273_13065275delGCT	uc002mwb.3	-	1	440_442	c.416_418delAGC	c.(415-420)cagcgg>cgg	p.Q139del		NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma interacting protein 1 (GADD45GIP1), mRNA.	139	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635													---	115	---	---	7	---					
ATRX	546	broad.mit.edu	37	X	76875860	76875861	+	Splice_Site	DEL	CA	-	-			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	uc004ecp.4	-	20	5504	c.5272_splice	c.e20+1	p.Y1758_splice	ATRX_uc004ecq.4_Splice_Site_p.Y1720_splice|ATRX_uc004eco.4_Splice_Site_p.Y1543_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1758	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GATATTAACTCACACTCAATTA	0.317			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	34	---	---	9	---					
