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
HSP90B3P	343477	broad.mit.edu	37	1	92108899	92108899	+	Missense_Mutation	SNP	C	C	T	rs2493202	by1000genomes	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:92108899C>T	uc010osx.2	+	2	926	c.926C>T	c.(925-927)tCt>tTt	p.S309F						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		TCTCCTCCATCTGTTGAACGA	0.433												
ASPM	259266	broad.mit.edu	37	1	197071366	197071366	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:197071366T>G	uc001gtu.3	-	17	7272	c.7015A>C	c.(7015-7017)Act>Cct	p.T2339P	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.T187P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2339	IQ 22.|IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGATGAAAGTAGCAGCCCTG	0.408												
RRP15	51018	broad.mit.edu	37	1	218478415	218478415	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:218478415G>A	uc001hlj.3	+	2	481	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	151						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGTAAAGCCAGATGTTGTCCA	0.363												
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(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)		ACTATTCCCAGTCAGAGGCGC	0.353		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)		
SLC22A10	387775	broad.mit.edu	37	11	63069908	63069908	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:63069908G>A	uc009yor.3	+	6	1386	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	393						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCATAGTTCGATGTCTTGCT	0.438												
NAALADL1	10004	broad.mit.edu	37	11	64821985	64821985	+	Missense_Mutation	SNP	C	C	T	rs138766443		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:64821985C>T	uc001ocn.3	-	4	845	c.829G>A	c.(829-831)Gga>Aga	p.G277R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	277	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGGGAAATCCGGAGACATTG	0.597												
UNC93B1	81622	broad.mit.edu	37	11	67765220	67765220	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:67765220C>T	uc001omw.1	-	6	911	c.831G>A	c.(829-831)cgG>cgA	p.R277R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	277					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GCGGGAGCGTCCGCAGAACCG	0.652												
MMP10	4319	broad.mit.edu	37	11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	rs150825082	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:102646042G>A	uc001phg.2	-	6	980	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	315	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGGGATCTTCGCCAAAAATAT	0.333												
KCNA1	3736	broad.mit.edu	37	12	5020794	5020794	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:5020794C>T	uc001qnh.3	+	1	1355	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	KCNA1_uc021qts.1_Missense_Mutation_p.R84C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	84					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTTCGACCGCAACCGGCC	0.627												
C12orf63	374467	broad.mit.edu	37	12	97085019	97085019	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:97085019C>T	uc021rcc.1	+	10	1548	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	490										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGGGCTGACATTTGCTCTG	0.358												
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr13:61986212C>G	uc001vid.4	-	1	2384	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_uc010thj.2_Missense_Mutation_p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	647	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458												
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:42355895C>T	uc001wvm.3	+	2	1265	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_uc010ana.3_Missense_Mutation_p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	23	LRRNT.					integral to membrane		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)		
GPR65	8477	broad.mit.edu	37	14	88478097	88478097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:88478097G>A	uc021rxh.1	+	0	906	c.906G>A	c.(904-906)tgG>tgA	p.W302*	GPR65_uc001xvv.3_Nonsense_Mutation_p.W302*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	302					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGATATGTGGAATATATTAA	0.343												
IGF1R	3480	broad.mit.edu	37	15	99454571	99454571	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:99454571C>G	uc002bul.3	+	6	1540	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	IGF1R_uc010urq.2_Missense_Mutation_p.S497C|IGF1R_uc010bon.3_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	497	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATTTCACCTCCACCACCACG	0.522												
LRRK1	79705	broad.mit.edu	37	15	101595206	101595206	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:101595206C>T	uc002bwr.3	+	26	4429	c.4110C>T	c.(4108-4110)atC>atT	p.I1370I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1370	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438												
KDM8	79831	broad.mit.edu	37	16	27225037	27225037	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:27225037C>T	uc010vcn.1	+	2	862	c.744C>T	c.(742-744)ggC>ggT	p.G248G	KDM8_uc002doh.2_Silent_p.G210G|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_5'Flank	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	210					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TCCTGAAAGGCGTGGCTGACC	0.582												
NPIPB7	440350	broad.mit.edu	37	16	28354478	28354478	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:28354478G>A	uc010vcr.2	-	6	1414	c.728C>T	c.(727-729)tCt>tTt	p.S243F	NPIPL1_uc010vcq.2_Missense_Mutation_p.S225F					SubName: Full=Uncharacterized protein;											lung(1)	1						CAATCCTGAAGAATGACGATG	0.473												
CHST5	23563	broad.mit.edu	37	16	75564022	75564022	+	Silent	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:75564022G>A	uc002fej.1	-	4	600	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CHST5_uc002fei.3_Silent_p.D87D|CHST5_uc021tlk.1_Silent_p.D87D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	87					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTAGAAGACGTCGGGGTGCT	0.672												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:39240819C>G	uc010wfn.2	+	0	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgctgcCTGCGTCCAGT	0.657												
MED13	9969	broad.mit.edu	37	17	60107352	60107352	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:60107352C>G	uc002izo.3	-	6	1109	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	MED13_uc002izp.3_5'UTR	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	344					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGACCCACTTCTGGACAG	0.363												
LAMA1	284217	broad.mit.edu	37	18	7011417	7011417	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr18:7011417G>A	uc002knm.3	-	24	3663	c.3569C>T	c.(3568-3570)aCg>aTg	p.T1190M	LAMA1_uc010wzj.2_Missense_Mutation_p.T666M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1190	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCTCGGTCGTGCCCCTCAA	0.597												
MUC16	94025	broad.mit.edu	37	19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:9088981G>A	uc002mkp.3	-	0	3038	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	945	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTTGCCGTCCCAGTGAG	0.478												
FCGBP	8857	broad.mit.edu	37	19	40376645	40376645	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:40376645T>G	uc002omp.4	-	23	11785	c.11777A>C	c.(11776-11778)aAt>aCt	p.N3926T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3926						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAAGTTTCATTCCTCCAGGG	0.627												
APOB	338	broad.mit.edu	37	2	21238335	21238335	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:21238335C>T	uc002red.3	-	21	3543	c.3415G>A	c.(3415-3417)Gcc>Acc	p.A1139T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1139					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCAGTGGGCGAGGATCTCA	0.463												
SDPR	8436	broad.mit.edu	37	2	192711670	192711670	+	Translation_Start_Site	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:192711670G>A	uc002utb.3	-	0						NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.							caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTGGGAACGTTCTTTCTCT	0.617												
ALS2CR11	151254	broad.mit.edu	37	2	202483659	202483659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:202483659delG	uc002uyf.3	-	0	247	c.195delC	c.(193-195)aacfs	p.N65fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc021vvc.1_Frame_Shift_Del_p.N65fs	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	65								p.K64N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTGGTTCTTGTTCTTAGGCA	0.657												
PFKL	5211	broad.mit.edu	37	21	45732952	45732952	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr21:45732952C>T	uc002zek.3	+	7	1061	c.660C>T	c.(658-660)gaC>gaT	p.D220D	PFKL_uc002zel.3_Silent_p.D173D|PFKL_uc011afd.1_Silent_p.D220D			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	173					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.T219A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGCACCGACATGACCATCG	0.632												
PARVB	29780	broad.mit.edu	37	22	44536022	44536022	+	Silent	SNP	C	C	T	rs149571024		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr22:44536022C>T	uc003bem.3	+	9	941	c.811_splice	c.e9+1	p.E271_splice	PARVB_uc003ben.3_Splice_Site_p.E238_splice|PARVB_uc010gzn.3_Splice_Site_p.E186_splice|PARVB_uc003beo.3_Splice_Site_p.E201_splice	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	238	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGGCCGGTTCGGTAAGTAAC	0.532												
UNC5C	8633	broad.mit.edu	37	4	96127874	96127874	+	Missense_Mutation	SNP	G	G	A	rs139568380	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr4:96127874G>A	uc003hto.3	-	10	2160	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	UNC5C_uc010ilc.2_Missense_Mutation_p.R622C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	603	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.R603S(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582												
AHRR	57491	broad.mit.edu	37	5	422882	422882	+	Silent	SNP	C	C	T	rs2671894	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:422882C>T	uc003jav.3	+	5	535	c.492C>T	c.(490-492)caC>caT	p.H164H	AHRR_uc003jaw.3_Silent_p.H164H|AHRR_uc010isy.3_Silent_p.H10H|AHRR_uc010isz.3_Silent_p.H160H|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.H20H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	164	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACTACATCCACGTGGACGACC	0.547												
CARD6	84674	broad.mit.edu	37	5	40853877	40853877	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:40853877delT	uc003jmg.3	+	2	2518	c.2443delT	c.(2443-2445)tttfs	p.F815fs		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	815					apoptosis|regulation of apoptosis	intracellular		p.T814K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGGAACATTTGGGAGACT	0.453												
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:45262241C>T	uc003jok.3	-	7	2480	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	819						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677												
DMGDH	29958	broad.mit.edu	37	5	78326739	78326739	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:78326739G>T	uc003kfs.3	-	9	1606	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	534					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AATGGTGATAGGTCAGTTACC	0.433												
GCNT2	2651	broad.mit.edu	37	6	10529185	10529186	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:10529185_10529186delTT	uc010joo.3	+	2	592_593	c.41_42delTT	c.(40-42)cttfs	p.L14fs	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L13fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	14						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGCGCGTCTCTTATCTCTGCCC	0.401												
LAMA2	3908	broad.mit.edu	37	6	129823804	129823804	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:129823804G>A	uc021zfb.1	+	59	8350	c.8245_splice	c.e59-1	p.G2749_splice	LAMA2_uc003qbn.3_Splice_Site_p.G2747_splice|LAMA2_uc003qbo.3_Splice_Site_p.G2743_splice|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2749					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTTACAGGGTCCTTGTGC	0.388												
PHACTR2	9749	broad.mit.edu	37	6	144086812	144086812	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:144086812T>C	uc010khi.3	+	5	1308	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	PHACTR2_uc003qjq.4_Missense_Mutation_p.V359A|PHACTR2_uc010khh.3_Missense_Mutation_p.V279A|PHACTR2_uc003qjr.4_Missense_Mutation_p.V290A	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	359							actin binding|protein phosphatase inhibitor activity	p.I369I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCGTCAGCGTTGGAGCTGAC	0.582												
SERAC1	84947	broad.mit.edu	37	6	158579375	158579375	+	Silent	SNP	G	G	A	rs139301835	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:158579375G>A	uc003qrc.2	-	1	163	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	7					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AACAGATGACGCAATAAGCAG	0.363												
PCLO	27445	broad.mit.edu	37	7	82579939	82579939	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:82579939G>T	uc003uhx.2	-	5	10254	c.9965C>A	c.(9964-9966)cCt>cAt	p.P3322H	PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.3_Missense_Mutation_p.P287H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3253					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCCAGAAGGGTCATAGTT	0.478												
EPHB4	2050	broad.mit.edu	37	7	100411279	100411279	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:100411279C>T	uc003uwn.1	-	9	2242	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	584					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.I583I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCACCATGTCCGATGAGATA	0.522												
CADPS2	93664	broad.mit.edu	37	7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:121960313C>T	uc022akp.1	-	28	4219	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_uc003vkg.4_Missense_Mutation_p.R920H|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1225H|CADPS2_uc022akr.1_Missense_Mutation_p.R1266H	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1266					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433												
FREM1	158326	broad.mit.edu	37	9	14824887	14824887	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:14824887G>C	uc003zlm.3	-	11	2801	c.1985C>G	c.(1984-1986)aCt>aGt	p.T662S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	662					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTTTCTTAGTTATATAGGC	0.428												
CRB2	286204	broad.mit.edu	37	9	126136965	126136965	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:126136965C>T	uc004bnx.1	+	10	3589	c.3497C>T	c.(3496-3498)gCt>gTt	p.A1166V		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1166	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGGTCTTGCTGGCCAGAGG	0.657												
GATA1	2623	broad.mit.edu	37	X	48650419	48650419	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:48650419C>A	uc004dkq.4	+	2	480	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	130					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.S129R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAGGCAGCACCAGCTTCCTG	0.602			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome							
ACTRT1	139741	broad.mit.edu	37	X	127185485	127185485	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:127185485C>T	uc004eum.3	-	0	898	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	234						cytoplasm|cytoskeleton		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCTCTCCCCGGCTCTTGCG	0.507												
