Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DNAH11	8701	broad.mit.edu	37	7	21824082	21824082	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:21824082G>C	uc003svc.3	+	58	9573	c.9542G>C	c.(9541-9543)aGa>aCa	p.R3181T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3181	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACAGAGAGAATGTGAA	0.413000									Kartagener syndrome				3	28					0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37775114	37775114	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr21:37775114G>C	uc002yvj.3	+	7	860	c.722G>C	c.(721-723)aGt>aCt	p.S241T		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	241					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	p.L240L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTAGACTGAGTTTCACTCCC	0.443000													46	227					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911693	80911693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:80911693G>A	uc001vli.3	-	1	1126	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SPRY2_uc001vlj.3_Nonsense_Mutation_p.R50*|SPRY2_uc021rkz.1_Nonsense_Mutation_p.R50*	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	50					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTGGTGTTTCGGATGGCTCTG	0.612000													4	145					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30520157	30520157	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:30520157G>T	uc002hgw.3	+	9	881	c.642G>T	c.(640-642)agG>agT	p.R214S	RHOT1_uc002hgy.3_Missense_Mutation_p.R214S|RHOT1_uc002hgz.3_Missense_Mutation_p.R214S|RHOT1_uc002hha.3_Missense_Mutation_p.R87S|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Missense_Mutation_p.R87S|RHOT1_uc010wby.2_Missense_Mutation_p.R214S|RHOT1_uc002hhb.3_Missense_Mutation_p.R193S|RHOT1_uc002hgv.3_Missense_Mutation_p.R214S	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	214	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTGCTAGAGGATTTGTTTCA	0.333000													11	47					1.58986e-06	1.63955e-06	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163133214	163133214	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:163133214A>C	uc002uce.3	-	10	2509	c.2287T>G	c.(2287-2289)Ttc>Gtc	p.F763V		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	763	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTTGAACTCACTGCTG	0.398000													12	62					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815851	156815851	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:156815851C>T	uc010pht.2	-	8	2170	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	624	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCTTCCAGCGCACCAGGAG	0.622000													16	69					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896383	205896383	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:205896383T>G	uc001hdp.3	-	10	1363	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	SLC26A9_uc001hdo.3_Missense_Mutation_p.I85L|SLC26A9_uc001hdq.3_Missense_Mutation_p.I417L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	417						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCATGGTGATCATCACCACC	0.483000													5	139					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	739166	739166	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:739166A>T	uc002ciz.1	-	0	1235	c.475T>A	c.(475-477)Ttc>Atc	p.F159I		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	221										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCACCCGAGAAGGTGCTGACA	0.632000													40	84					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511870	195511870	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:195511870G>A	uc021xjp.1	-	1	6737	c.6581C>T	c.(6580-6582)cCt>cTt	p.P2194L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	983					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.592000													4	13					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:15807863C>T	uc002nbl.3	+	12	1662	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567000													24	101					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:47407972G>A	uc003tnw.3	-	16	2629	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_uc022acn.1_Silent_p.T314T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632000													61	219					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632727	33632727	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33632727A>G	uc021ywr.1	+	11	1453	c.1229A>G	c.(1228-1230)gAg>gGg	p.E410G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	410	MIR 5.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATCGAGGAGGAGCGGCCCATC	0.667000													25	45					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179084144	179084144	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:179084144T>A	uc001gmj.4	-	8	1717	c.1430A>T	c.(1429-1431)gAa>gTa	p.E477V	ABL2_uc010pnf.2_Missense_Mutation_p.E477V|ABL2_uc010png.2_Missense_Mutation_p.E456V|ABL2_uc010pnh.2_Missense_Mutation_p.E456V|ABL2_uc009wxe.3_Missense_Mutation_p.E456V|ABL2_uc001gmg.4_Missense_Mutation_p.E462V|ABL2_uc001gmi.4_Missense_Mutation_p.E462V|ABL2_uc010pne.2_Missense_Mutation_p.E441V	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	477	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K477E(1)|p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTAGCAATTTCCCACAACAA	0.378000			T	ETV6	AML								18	96					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902246	51902246	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:51902246C>A	uc002iua.2	+	0	2008	c.1852C>A	c.(1852-1854)Caa>Aaa	p.Q618K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	618					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S617G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGATCTAGCCAATGGCTGGA	0.443000													22	105					3.7963e-18	4.24671e-18	1	1	0
MORC2	22880	broad.mit.edu	37	22	31330834	31330834	+	Silent	SNP	A	A	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr22:31330834A>C	uc003aje.1	-	19	3305	c.1941T>G	c.(1939-1941)gtT>gtG	p.V647V		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	709							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGGAGAAGGAACCTCCCGAG	0.552000													69	214					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67878228	67878228	+	Splice_Site	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:67878228C>T	uc002aqu.3	+	5	976	c.323_splice	c.e5-1	p.A108_splice	MAP2K5_uc002aqv.3_Splice_Site_p.A108_splice|MAP2K5_uc010ujw.2_Splice_Site_p.A72_splice	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	108					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTGTTTCAGCCTGCAAGCCT	0.373000													8	71					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121693973	121693973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:121693973C>T	uc003vjy.3	+	25	6657	c.6262C>T	c.(6262-6264)Cag>Tag	p.Q2088*	PTPRZ1_uc011knt.2_Nonsense_Mutation_p.Q1228*|PTPRZ1_uc003vjz.3_Nonsense_Mutation_p.Q1221*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2088	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403000													47	71					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34909891	34909891	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:34909891T>C	uc010reo.1	-	5	613	c.461A>G	c.(460-462)cAt>cGt	p.H154R	APIP_uc001mvs.2_Missense_Mutation_p.H137R			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	137					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CATCTCTTGATGTGTAATTTT	0.373000													22	73					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932115	75932115	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:75932115T>C	uc003yan.3	+	10	1648	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	CRISPLD1_uc011lfk.2_Missense_Mutation_p.S192P|CRISPLD1_uc011lfl.2_Missense_Mutation_p.S192P	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	380	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATATCAGTCTGCTAATTC	0.333000													22	22					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867117	49867117	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:49867117C>T	uc003cxs.1	-	12	1275	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	TRAIP_uc010hla.1_Missense_Mutation_p.R291Q	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	390	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGGCATTCCGGACAAAAAT	0.587000													27	49					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:29061941T>C	uc021tug.1	+	1		c.231T>C			SUZ12P1_uc002hfp.3_Non-coding_Transcript|SUZ12P1_uc002hfq.3_Non-coding_Transcript					Homo sapiens suppressor of zeste 12 homolog pseudogene (SUZ12P), non-coding RNA.																		TAGATTTCTTTGAACTCGGAA	0.303000													4	37					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000													6	101					0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175574052	175574052	+	RNA	SNP	G	G	A	rs73332206	by1000genomes	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:175574052G>A	uc003mdn.3	-	22		c.3377C>T								Homo sapiens centrosomal protein 192kDa pseudogene (LOC643201), non-coding RNA.																		GTGGGGTTTGGGCTGTCAACT	0.463000													4	16					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	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								22	22					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848685	25848685	+	RNA	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr20:25848685G>C	uc002wvd.1	-	0		c.102C>G								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggccctttgggactcctggca	0.672000													3	11					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116224037	116224037	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116224037G>A	uc004bhq.3	+	2	340	c.131G>A	c.(130-132)cGt>cAt	p.R44H	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	44					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATCTCACCGTCCTGAGTGT	0.537000													24	112					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835445	15835445	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:15835445G>A	uc002ddx.3	-	22	2862	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	MYH11_uc002ddv.3_Missense_Mutation_p.R919W|MYH11_uc002ddw.3_Missense_Mutation_p.R912W|MYH11_uc002ddy.3_Missense_Mutation_p.R912W|MYH11_uc010bvg.3_Missense_Mutation_p.R744W	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	912					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCAGCCGCACCCGCATC	0.622000			T	CBFB	AML								5	254					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502918	140502918	+	Silent	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:140502918C>T	uc003lip.1	+	0	1338	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.602000													111	112					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177032847	177032847	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr4:177032847T>C	uc003iuj.3	+	2	491	c.188T>C	c.(187-189)aTt>aCt	p.I63T	WDR17_uc003ium.4_Missense_Mutation_p.I39T|WDR17_uc003iul.2_Missense_Mutation_p.I39T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	63										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATCTATATTTATCAGGTA	0.343000													15	37					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:240071128C>T	uc021plc.1	+	0	377	c.377C>T	c.(376-378)aCg>aTg	p.T126M	CHRM3_uc001hyp.3_Missense_Mutation_p.T126M	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	126					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T126M(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AATCTGTTTACGACCTACATC	0.468000													20	37					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:197348674A>G	uc011bug.2	-	3		c.417T>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		GGCTCTGTCCACCAAATGCAC	0.478000													4	147					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768522	51768522	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:51768522C>G	uc003pah.1	-	42	7145	c.6869G>C	c.(6868-6870)tGg>tCg	p.W2290S	PKHD1_uc010jzn.1_Missense_Mutation_p.W273S|PKHD1_uc003pai.3_Missense_Mutation_p.W2290S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2290					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.D2289Y(1)|p.D2289G(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTCCTGACCAGTCTAATGT	0.393000													16	41					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581631	55581631	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr10:55581631G>C	uc010qhy.1	-	34	6271	c.5876C>G	c.(5875-5877)tCt>tGt	p.S1959C	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.S806C|PCDH15_uc021pqy.1_Missense_Mutation_p.S1954C|PCDH15_uc021pqz.1_Missense_Mutation_p.S1929C|PCDH15_uc010qhv.1_Missense_Mutation_p.S1949C|PCDH15_uc010qhw.1_Missense_Mutation_p.S1912C|PCDH15_uc010qhx.1_Missense_Mutation_p.S1883C|PCDH15_uc010qhz.1_Missense_Mutation_p.S1954C|PCDH15_uc010qia.1_Missense_Mutation_p.S1932C|PCDH15_uc001jju.1_Missense_Mutation_p.S1952C|PCDH15_uc010qib.1_Missense_Mutation_p.S1929C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1952					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTGAAGTAGATTGACTGTG	0.363000										HNSCC(58;0.16)			21	115					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750573	42750573	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:42750573G>A	uc003cly.4	-	15	2131	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	683										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTCCCCGCAGGGCACTG	0.592000													20	76					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90212791	90212791	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:90212791C>T	uc010upx.1	-	5	821	c.711G>A	c.(709-711)atG>atA	p.M237I	PLIN1_uc002boh.2_Missense_Mutation_p.M237I	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	237					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCCCGGGCCATGGTCTGCA	0.642000													23	69					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652456	211652456	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:211652456G>A	uc001him.2	-	2	1674	c.510C>T	c.(508-510)tcC>tcT	p.S170S	RD3_uc001hin.2_Silent_p.S170S|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	170					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCACGTCCTCGGAGATGGTCC	0.716000													6	26					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798711	57798711	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:57798711T>C	uc010rjz.2	+	0	287	c.287T>C	c.(286-288)aTc>aCc	p.I96T	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I96M(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCAAGAATATCTCTTATGCT	0.483000													10	139					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363763	22363763	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:22363763G>A	uc002nqs.1	-	2	1074	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.373000													30	66					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062359	107062359	+	RNA	SNP	G	G	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:107062359G>T	uc021ser.1	-	150		c.6627C>A								Parts of antibodies, mostly variable regions.																		AGACAGCGCAGATGAGGGACA	0.607000													5	87					0.0381472	0.0381472	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325287	47325287	+	RNA	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:47325287T>C	uc001cqo.1	-	8		c.1281A>G								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AATCCAAACATAGCTGCATTG	0.388000													4	41					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405999	91405999	+	Silent	SNP	G	G	T	rs144274015	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:91405999G>T	uc001dnw.3	-	2	1195	c.912C>A	c.(910-912)acC>acA	p.T304T	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.T304T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCAATCCTCGGTATAACGAG	0.343000													9	28					2.17888e-05	2.2124e-05	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:139412302C>A	uc004chz.3	-	7	1343	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	448	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			24	80					4.26978e-12	4.69675e-12	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157738222	157738222	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:157738222C>T	uc001fre.2	-	4	924	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V289M|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	289	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGATATTCACCACCTTGCTC	0.478000													19	95					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32449596	32449596	+	Silent	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:32449596A>G	uc002roi.3	-	8	3282	c.3021T>C	c.(3019-3021)ttT>ttC	p.F1007F	NLRC4_uc021vfq.1_Silent_p.F1007F|NLRC4_uc002roj.2_Silent_p.F1007F|NLRC4_uc010ezt.2_Silent_p.F342F	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	1007					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCATCATCAAATTGCCACC	0.378000													45	65					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567331	4567331	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:4567331A>G	uc010qyf.2	+	0	911	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATCCGAGAGAGCCTTCTC	0.438000													4	75					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120947837	120947837	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr12:120947837C>T	uc001tyn.3	-	3	684	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	COQ5_uc010szj.2_Missense_Mutation_p.V148I	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTGTGACATTCCGGATC	0.433000													14	38					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	T	C			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000													3	6					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	69					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181517	24181517	+	Splice_Site	SNP	G	G	A	rs138768775		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:24181517G>A	uc003xdy.3	+	9	973	c.890_splice	c.e9+1	p.T297_splice	ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423000													8	25					0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535986	90535986	+	Silent	SNP	G	G	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:90535986G>A	uc010mqi.3	+	3	1193	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	FAM75C1_uc004apq.4_Silent_p.S371S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCCTGCGTCGCAGAATAAAG	0.517000													60	316					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268721	57268721	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:57268721C>A	uc001xcq.3	-	4	900	c.626G>T	c.(625-627)tGt>tTt	p.C209F	OTX2_uc001xcp.3_Missense_Mutation_p.C201F|OTX2_uc021rtm.1_Missense_Mutation_p.C31F|OTX2_uc010aou.3_Missense_Mutation_p.C201F	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	201					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATGATCCACAGTCCATGCC	0.522000													20	79					1.50039e-11	1.62337e-11	1	1	0
CEBPE	1053	broad.mit.edu	37	14	23588124	23588124	+	Silent	SNP	G	G	A	rs141320203		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:23588124G>A	uc001wiv.2	-	0	697	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGGCTTCACGGCAAAGAGAT	0.647000													27	147					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:99364768C>T	uc003urv.2	-	7	891	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CYP3A4_uc003urw.2_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.2_Missense_Mutation_p.E221K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308000													14	45					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21183987	21183987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:21183987delA	uc001bec.3	-	19	3336	c.3080delT	c.(3079-3081)gtcfs	p.V1027fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V631fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V1026fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V747fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V1063fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V1033fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1027					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCTGGACACCTGCAGG	0.463													51	225	---	---	---	---					
ATF2	1386	broad.mit.edu	37	2	175957831	175957833	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:175957831_175957833delCTC	uc002ujl.3	-	11	1403_1405	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E381del	ATF2_uc002ujv.3_In_Frame_Del_p.E128del|ATF2_uc002ujm.3_In_Frame_Del_p.E323del|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_In_Frame_Del_p.E381del|ATF2_uc010fqu.3_In_Frame_Del_p.E363del|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_In_Frame_Del_p.E323del|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_In_Frame_Del_p.E332del|ATF2_uc002ujw.1_In_Frame_Del_p.E323del|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	381	Leucine-zipper.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGCTTTCTTCTCTAAAGACTGA	0.350													38	95	---	---	---	---					
SCRIB	23513	broad.mit.edu	37	8	144886879	144886882	+	Frame_Shift_Del	DEL	GGGA	GGGA	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:144886879_144886882delGGGA	uc003yzp.1	-	20	2872_2875	c.2865_2868delTCCC	c.(2863-2868)cctcccfs	p.P955fs	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Frame_Shift_Del_p.P955fs	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	955	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGAGGGCTGGGAGGAAGAGGGC	0.696													10	31	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116246504_116246506delCTT	uc004bhq.3	+	6	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													13	88	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65270886	65270887	+	RNA	INS	-	-	TA			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:65270886_65270887insTA	uc010roh.2	+	0		c.5654_5655insTA			AF113016_uc001ody.3_Non-coding_Transcript					Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		ATTTGCATCTTTAAATAATTTC	0.371													12	55	---	---	---	---					
MLL	4297	broad.mit.edu	37	11	118343733	118343735	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:118343733_118343735delCTT	uc001pta.3	+	2	1882_1884	c.1859_1861delCTT	c.(1858-1863)acttct>act	p.S621del	MLL_uc001ptb.3_In_Frame_Del_p.S621del|MLL_uc001psz.1_In_Frame_Del_p.S654del|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	621					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTTAGGTGGACTTCTTTAAAGCA	0.433			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								13	78	---	---	---	---					
RXFP2	122042	broad.mit.edu	37	13	32371470	32371471	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:32371470_32371471delTC	uc001utt.3	+	16	1990_1991	c.1919_1920delTC	c.(1918-1920)ttcfs	p.F640fs	RXFP2_uc010aba.3_Frame_Shift_Del_p.F616fs	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	640						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAAATCGTTTCTTTTTTATAG	0.396													45	53	---	---	---	---					
ADCY9	115	broad.mit.edu	37	16	4165289	4165291	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4165289_4165291delGAG	uc002cvx.3	-	1	692_694	c.153_155delCTC	c.(151-156)tcctct>tct	p.51_52SS>S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.S52C(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCTGT	0.665													9	57	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4935140	4935142	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4935140_4935142delCTC	uc002cyd.1	-	21	3604_3606	c.3514_3516delGAG	c.(3514-3516)gagdel	p.E1172del		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1172					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCGCACCTTCTCCTGCACCACC	0.635													25	230	---	---	---	---					
DNAJA2	10294	broad.mit.edu	37	16	46991039	46991040	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:46991039_46991040delCT	uc002eeo.2	-	8	1282_1283	c.1140_1141delAG	c.(1138-1143)cgaggcfs	p.R380fs		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	380					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R380R(3)|p.R380L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTCCTGAGCCTCGAGTGCTAT	0.465													156	305	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576886	7576887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:7576886_7576887insT	uc002gim.2	-	8	1153_1154	c.959_960insA	c.(958-960)aagfs	p.K320fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.K320fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Ins_p.K188fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.K188fs|TP53_uc002gii.1_Frame_Shift_Ins_p.K188fs|TP53_uc010cni.1_Frame_Shift_Ins_p.K320fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.K320fs|TP53_uc002gij.2_Frame_Shift_Ins_p.K320fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (in sporadic cancers; 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.0?(8)|p.K319*(7)|p.K320N(6)|p.K320fs*26(4)|p.K320*(3)|p.K320fs*25(2)|p.P318fs*15(2)|p.K319N(2)|p.K319E(2)|p.K320K(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K319fs*19(1)|p.K319R(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)		CCAGTGGTTTCTTCTTTGGCTG	0.460		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)			83	21	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-	rs36208091		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:13318673_13318678delCTGCTG	uc002mwy.3	-	46	7206_7211	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_uc002mwx.3_In_Frame_Del_p.QQ1018del|CACNA1A_uc010dzc.2_In_Frame_Del_p.QQ1850del|CACNA1A_uc010xnd.2_3'UTR|CACNA1A_uc021ups.1_3'UTR|CACNA1A_uc010xne.2_In_Frame_Del_p.QQ2327del|CACNA1A_uc010dze.2_3'UTR|CACNA1A_uc021upt.1_3'UTR|CACNA1A_uc002mwv.3_In_Frame_Del_p.QQ829del	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2323	Poly-Gln.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCACCGCctgctgctgctgctgc	0.767													2	4	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49003052	49003052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:49003052delG	uc002pjk.3	-	11	1361	c.1361delC	c.(1360-1362)ccafs	p.P454fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTCTCGGGGTGGGGGTGGCGG	0.716													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938097	76938100	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chrX:76938097_76938100delTCTT	uc004ecp.4	-	8	2880_2883	c.2648_2651delAAGA	c.(2647-2652)caagagfs	p.Q883fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q845fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q668fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q815fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q854fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q828fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	883					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)	AGTCTCTCTCTCTTGTTTTCTTTC	0.407			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						79	28	---	---	---	---					
