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
ANKMY2	57037	broad.mit.edu	37	7	16640446	16640446	+	Silent	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:16640446G>A	uc003sti.3	-	9	1510	c.1266C>T	c.(1264-1266)agC>agT	p.S422S	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	422						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACTCAGCTTCGCTTTCAAGAG	0.493000													4	50					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	rs139016848	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	uc003agr.3	-	19	2306	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_uc011akr.2_Missense_Mutation_p.R645H|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627000													12	328					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595224	12595224	+	Splice_Site	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:12595224C>T	uc001ilo.3	+	2	328	c.93_splice	c.e2-1	p.T31_splice	CAMK1D_uc001iln.3_Splice_Site_p.T31_splice	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	31	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTGTTCACAGCGGGGCCTTTT	0.463000													4	65					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	rs143724624		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:108524126G>A	uc003vfo.3	-	1	334	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	96						integral to membrane		p.R96Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348000													14	67					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95418828	95418828	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:95418828C>T	uc004asl.1	-	2	412	c.135G>A	c.(133-135)tcG>tcA	p.S45S		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	45					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATATCTCTTCCGAGGTCTGTA	0.493000													5	62					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632556	5632556	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5632556G>A	uc001mbd.3	+	7	1798	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R458H|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R309H|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R484H|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R309H|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R309H|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R309H|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	838						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ATGACCCTGCGTCGTCCAAGC	0.413000													8	97					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	uc004bqw.4	+	1	458	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_uc011maf.2_5'UTR|ZNF79_uc011mag.2_5'UTR	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478000													5	17					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645355	1645355	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:1645355G>A	uc003wpl.3	+	10	2696	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S	DLGAP2_uc003wpm.3_Missense_Mutation_p.G853S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	946					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCTGGCCGGCTACTGGGA	0.647000													3	31					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	rs121913416		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	uc010hia.1	+	3	265	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_uc003ckq.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckp.2_Missense_Mutation_p.S37A|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37A|CTNNB1_uc011azf.1_Missense_Mutation_p.S30A|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(176)|p.S37C(145)|p.S37A(124)|p.A5_A80del(119)|p.S37P(44)|p.S37Y(34)|p.H36P(27)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.H36Y(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.H36R(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.I35_S37>T(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.S37T(2)|p.V22_L139>V(2)|p.V22_S71>A(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.S33_S37del(2)|p.Y30_T40del(2)|p.S37_G38>W(2)|p.A5_Q143>E(2)|p.I35_G38del(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.S37_G48>C(1)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.S29_H36del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.H36del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.G34_S37del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.D32_H36>D(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGAATCCATTCTGGTGCCAC	0.498000	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	46					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47469888	47469888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr13:47469888G>A	uc010acr.3	-	1	843	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443000													4	40					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926528	72926528	+	Silent	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	uc010wrp.2	+	5	890	c.798T>C	c.(796-798)ggT>ggC	p.G266G		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	266						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572000													76	169					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	uc002jfe.3	+	14	1375	c.1172C>T	c.(1171-1173)gCa>gTa	p.A391V	RGS9_uc021ubw.1_Missense_Mutation_p.A388V|RGS9_uc010dem.3_Missense_Mutation_p.A388V|RGS9_uc002jfd.3_Missense_Mutation_p.A388V|RGS9_uc002jfg.3_Missense_Mutation_p.A162V	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557000													4	44					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:44145009C>A	uc002ikc.3	-	4	2029	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_uc002ikd.3_Nonsense_Mutation_p.E520*|KANSL1_uc010dav.3_Nonsense_Mutation_p.E520*	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	520						MLL1 complex	protein binding										CCATGGTTTTCCAATGGCTGA	0.413000													4	36					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	uc009xhm.1	+	8	865	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_uc001ige.3_Missense_Mutation_p.Q231R|WDR37_uc001igf.1_Missense_Mutation_p.Q231R|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488000													8	66					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	uc001atv.3	+	16	2219	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_uc001atw.3_Missense_Mutation_p.D693G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	693					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468000													27	53					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	uc002mmr.3	+	4	797	c.548T>C	c.(547-549)gTg>gCg	p.V183A		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	183					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532000													4	50					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332378	50332378	+	Missense_Mutation	SNP	C	C	T	rs142315421	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:50332378C>T	uc021wyn.1	-	1	742	c.656G>A	c.(655-657)cGc>cAc	p.R219H	HYAL3_uc003cze.2_Intron|HYAL3_uc003czf.2_Intron|HYAL3_uc003czd.2_Missense_Mutation_p.R219H|HYAL3_uc003czg.2_Missense_Mutation_p.R219H	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	219					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCATGGCAGCGGCCGGTATA	0.632000													19	63					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	uc001zhi.3	+	26	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_uc010bar.3_Missense_Mutation_p.D1156Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1156	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483000													4	145					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9085108	9085108	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:9085108G>A	uc009vmo.1	-	1	77	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	26						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCAGTGTCGCCAGCAACAG	0.647000													3	36					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	uc003mzv.2	-	4	954	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_uc010joz.2_Missense_Mutation_p.I263V|NEDD9_uc003mzw.3_Missense_Mutation_p.I117V	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	263					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552000													3	76					0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	562264	562264	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	uc001lqc.3	+	2	345	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_Missense_Mutation_p.E104K|RASSF7_uc001lqd.3_Missense_Mutation_p.E104K	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	104					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667000													5	49					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	uc002igt.1	-	12	1306	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	425					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612000													15	32					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785319	134785319	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	uc003law.4	-	1	512	c.311G>A	c.(310-312)aGg>aAg	p.R104K	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.R104K	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	104										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587000													12	114					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55363026	55363026	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr16:55363026G>A	uc002ehy.3	+	4	1669	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	IRX6_uc002ehx.3_Missense_Mutation_p.R379H	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTGAGTGCCGTATGATTCCT	0.627000													4	63					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr21:47754527A>G	uc002zji.4	+	2	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_uc002zjj.3_Missense_Mutation_p.S44G|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	162					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													5	108					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	uc002myc.3	-	6	789	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_uc002myb.3_Missense_Mutation_p.W189G|PRKACA_uc010xnm.1_Missense_Mutation_p.W139G|PRKACA_uc002myd.3_Missense_Mutation_p.W139G	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	197	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642000													7	39					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:16952952G>A	uc010ocf.2	-	0		c.43C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TCTGCCCTCAGCTTGGTCACG	0.622000													4	53					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	uc002yaz.3	-	18	1763	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	542					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.R542T(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318000													16	46					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822326	97822326	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:97822326C>T	uc003upd.2	+	10	2842	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	850					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P850L(6)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTTATTGTCCCGGAGGACTGT	0.552000													8	82					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809003	48809003	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:48809003G>A	uc002rwp.2	+	1	1345	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E411K|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E411K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	411					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTACGAGGAGCAAGA	0.403000													6	49					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	uc001dqr.3	-	5	1102	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_3'UTR	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	294					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433000													3	85					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41529904	41529904	+	Silent	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:41529904G>A	uc003xok.3	-	37	5148	c.5064C>T	c.(5062-5064)acC>acT	p.T1688T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.T842T|ANK1_uc003xoi.3_Silent_p.T1688T|ANK1_uc003xoj.3_Silent_p.T1688T|ANK1_uc003xol.3_Silent_p.T1526T|ANK1_uc003xom.3_Silent_p.T1729T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1688	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGACTCACGGTGGGGGAAT	0.567000													3	52					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100031160	100031160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:100031160C>T	uc003uuw.3	+	3	2441	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	MEPCE_uc022ain.1_Nonsense_Mutation_p.R216*|MEPCE_uc022aio.1_Nonsense_Mutation_p.R216*|MEPCE_uc003uuv.3_Nonsense_Mutation_p.R216*	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	685	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACAAGGCCCGATCCCCCAG	0.582000													4	52					0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1900177	1900177	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:1900177G>A	uc001aim.1	-	10	1298	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L	KIAA1751_uc009vkz.1_Missense_Mutation_p.P381L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	381										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACTGGTGGGGGGATGCTGTTT	0.537000													4	124					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106312568	106312568	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:106312568C>T	uc004emz.3	-	5	1046	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	RBM41_uc004emy.2_Missense_Mutation_p.R331Q	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	331	RRM.						RNA binding|nucleotide binding	p.R331Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCTGGAACCGAGCGAACAA	0.418000													48	13					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7806622	7806622	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	uc002gjd.2	+	22	3707	c.3705C>T	c.(3703-3705)gcC>gcT	p.A1235A	CHD3_uc002gje.2_Silent_p.A1176A|CHD3_uc002gjf.2_Silent_p.A1176A|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1176					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577000													6	62					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529775	80529775	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:80529775C>T	uc021vjt.1	-	0	1170	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.S390S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	390						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.S390S(3)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGTGGTGGCCGAGCTGGCAG	0.721000										HNSCC(69;0.2)			3	27					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	uc010xpn.1	+	7	1776	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.G573R|ANKLE1_uc010eao.1_Missense_Mutation_p.G569R|ANKLE1_uc002nfy.2_Missense_Mutation_p.G536R|ANKLE1_uc002nfz.2_Missense_Mutation_p.G279R			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	524						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642000													3	52					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53819285	53819285	+	Silent	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	uc001scx.2	+	4	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_uc009zmy.2_Silent_p.P183P|AMHR2_uc021qyg.1_Silent_p.P183P	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	183					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592000													3	80					0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90447061	90447061	+	Silent	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:90447061G>A	uc002bos.4	-	3	611	c.456C>T	c.(454-456)ctC>ctT	p.L152L	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.L152L	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	152					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										CCCCCAGCTCGAGTTCCATCA	0.627000													40	73					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	uc021rsi.1	+	0	441	c.441T>A	c.(439-441)tgT>tgA	p.C147*	SSTR1_uc001wul.1_Nonsense_Mutation_p.C147*	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	147					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCATCTACTGTCTGACTGTGC	0.647000													6	160					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	uc002gpo.3	-	31	4842	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_uc002gpn.3_Nonsense_Mutation_p.Q1541*|NCOR1_uc002gpm.3_Nonsense_Mutation_p.Q46*|NCOR1_uc010vwb.2_Nonsense_Mutation_p.Q109*|NCOR1_uc010coy.3_Nonsense_Mutation_p.Q433*|NCOR1_uc010vwc.2_Nonsense_Mutation_p.Q336*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1525	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493000													6	19					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:114968116_114968118delTGT	uc001eew.3	-	8	1732_1734	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_uc010owr.2_In_Frame_Del_p.T140del|TRIM33_uc010ows.2_In_Frame_Del_p.T158del|TRIM33_uc001eex.3_In_Frame_Del_p.T550del	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								7	362	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													8	7	---	---	---	---					
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:123301995_123301997delGAG	uc003vky.2	+	1	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:6289099delA	uc003wqi.3	+	3	389	c.313delA	c.(313-315)aaafs	p.K105fs	MCPH1_uc003wqh.3_Frame_Shift_Del_p.K105fs|MCPH1_uc011kwl.2_Frame_Shift_Del_p.K105fs	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	105						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													8	73	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720833	89720833	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	uc001kfb.3	+	7	2016	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	328	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.A328fs*15(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	74	---	---	---	---					
HBG1	3047	broad.mit.edu	37	11	5275612	5275612	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	uc001mai.1	-	1	662	c.225delC	c.(223-225)gccfs	p.A75fs	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Frame_Shift_Del_p.A75fs	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	75					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527													11	217	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	CCG	CCG	rs141478862	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:56089908_56089909insCCG	uc002qlh.3	-	1	1150_1151	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	ZNF579_uc021vby.1_In_Frame_Ins_p.366_366G>GG	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													4	3	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44966780	44966783	+	Splice_Site	DEL	AAGT	-	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	uc011mkz.2	+	28	4536	c.4161_splice	c.e28+1	p.E1387_splice	KDM6A_uc004dge.4_Splice_Site_p.E1335_splice|KDM6A_uc011mla.2_Splice_Site_p.E1290_splice|KDM6A_uc011mlb.2_Splice_Site_p.E1342_splice|KDM6A_uc011mlc.2_Splice_Site_p.E1039_splice|KDM6A_uc022bvj.1_Splice_Site_p.E1256_splice|KDM6A_uc022bvk.1_Splice_Site|KDM6A_uc011mld.2_Splice_Site_p.E974_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1335					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								12	42	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	110	---	---	---	---					
