Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FLNC	2318	broad.mit.edu	37	7	128492959	128492959	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	uc003vnz.4	+	36	6291	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	FLNC_uc003voa.4_Missense_Mutation_p.P1995S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2028					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAACAGCCCCTTCAAGAT	0.617000														88			7		0	0	0.029380	0	0
KRT75	9119	broad.mit.edu	37	12	52822506	52822506	+	Missense_Mutation	SNP	C	T	T	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	uc001saj.2	-	5	1079	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	353	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGTCTGCCTGCGGTGACCTGC	0.547000														120			9		0	0	0.069234	0	0
PSD3	23362	broad.mit.edu	37	8	18393449	18393449	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	uc003wza.3	-	15	3051	c.2948A>G	c.(2947-2949)tAt>tGt	p.Y983C	PSD3_uc003wyx.4_Missense_Mutation_p.Y312C|PSD3_uc003wyy.3_Missense_Mutation_p.Y449C|PSD3_uc003wyz.3_Missense_Mutation_p.Y284C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	984					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488000														88			3		0	0	0.014758	0	0
PTPN9	5780	broad.mit.edu	37	15	75761319	75761319	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	uc002bal.3	-	12	2081	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	525	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512000														20			14		0	0	0.038395	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451627	22451627	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	uc003zpp.1	+	1	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	411					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408000														69			29		0	0	0.041601	0	0
TRAF7	84231	broad.mit.edu	37	16	2223509	2223509	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	uc002cow.3	+	10	1139	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	347					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGAGCAAGCTCAGCGAGGAC	0.682000														57			34		0	0	0.039052	0	0
FGD5	152273	broad.mit.edu	37	3	14862573	14862573	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	uc003bzc.3	+	0	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_uc011avk.2_Silent_p.T665T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512000														38			30		0	0	0.050027	0	0
abParts	0	broad.mit.edu	37	14	106586332	106586332	+	RNA	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr14:106586332G>A	uc021ser.1	-	1811		c.33964C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGTGCATGTCGTAGCTACTGA	0.582000														169			5		0	0	0.058154	0	0
GOLGA8C	729786	broad.mit.edu	37	15	20777971	20777971	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:20777971G>A	uc010tzc.1	+	17	2227	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P	DQ572979_uc001ytq.2_5'Flank					Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						CTGCACAGCCGATCGTGCAGG	0.572000														125			80		0	0	0.048971	0	0
RARS2	57038	broad.mit.edu	37	6	88229954	88229954	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	uc003pme.3	-	12	1116	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	RARS2_uc003pmc.3_Missense_Mutation_p.K177N|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	352					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328000														137			20		3.08376e-08	3.3496e-08	0.083992	1	0
FCHO1	23149	broad.mit.edu	37	19	17886277	17886277	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	uc002nhg.3	+	14	1237	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_uc010ebb.2_Missense_Mutation_p.V320M|FCHO1_uc002nhh.2_Missense_Mutation_p.V320M|FCHO1_uc010xpw.1_Missense_Mutation_p.V270M|FCHO1_uc010ebc.1_Missense_Mutation_p.V327M	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	320										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597000											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		194			22		0	0	0.099896	0	0
SOX17	64321	broad.mit.edu	37	8	55372386	55372386	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	uc003xsb.4	+	1	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	359	Sox C-terminal.				Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692000														40			13		0	0	0.020292	0	0
DSC2	1824	broad.mit.edu	37	18	28650804	28650804	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	uc002kwl.4	-	13	2592	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	DSC2_uc002kwk.4_Missense_Mutation_p.T713M	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	713					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363000														52			11		0	0	0.024245	0	0
IL17C	27189	broad.mit.edu	37	16	88705399	88705399	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	uc002fla.3	+	1	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	6					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCCTCCCCGGCCTCCTGTTT	0.642000														199			50		0	0	0.048971	0	0
MRAP	56246	broad.mit.edu	37	21	33684248	33684248	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	uc002ypj.3	+	4	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.V95I|MRAP_uc002ypl.3_Missense_Mutation_p.V154I	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	154					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.L153L(1)		endometrium(1)|large_intestine(2)|lung(3)	6						GGGTCCCCTCGTCAGGAGCAA	0.602000														45			33		0	0	0.069456	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:129116292A>C	uc003eme.1	-	0		c.506T>G			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_5'Flank					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512000														50			10		0	0	0.076483	0	0
DDX39B	7919	broad.mit.edu	37	6	31506618	31506618	+	Silent	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:31506618C>T	uc003ntt.3	-	3	1012	c.354G>A	c.(352-354)gtG>gtA	p.V118V	DDX39B_uc003ntu.3_Silent_p.V118V|DDX39B_uc011dnn.2_Intron|DDX39B_uc003ntv.3_Silent_p.V118V|DDX39B_uc003ntw.2_Silent_p.V118V|DDX39B_uc003ntx.2_Silent_p.V118V|DDX39B_uc011dno.1_Silent_p.V71V|DDX39B_uc011dnp.1_Intron|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	118	Helicase ATP-binding.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGTGACACATCACCAGTACAG	0.453000														72			7		0	0	0.069234	0	0
EMG1	10436	broad.mit.edu	37	12	7083747	7083747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	uc001qsh.4	+	3	444	c.301C>T	c.(301-303)Cga>Tga	p.R101*	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	102					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCCCTGAACCGAGCTGGCTT	0.493000														32			15		0	0	0.028581	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764196	99764196	+	Missense_Mutation	SNP	G	A	A	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	uc003utt.3	-	1	1375	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.R120C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	120					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGTGGGCGGTAGCCTTTT	0.612000														167			4		0	0	0.021553	0	0
PRKDC	5591	broad.mit.edu	37	8	48792204	48792204	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	uc003xqi.3	-	39	5137	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_uc003xqj.3_Missense_Mutation_p.L1694V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1695					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATGGAAGAAGAGTGACAGCT	0.463000								Non-homologous end-joining						17			4		0	0	0.009096	0	0
DHODH	1723	broad.mit.edu	37	16	72057134	72057134	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	uc002fbp.3	+	6	911	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	297					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	p.R297C(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGTGCCCTGCGCTCTGAAACA	0.562000														88			4		0	0	0.009096	0	0
PPM1B	5495	broad.mit.edu	37	2	44457550	44457550	+	Splice_Site	SNP	A	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	uc002rtt.3	+	6	1563	c.1135_splice	c.e6-2	p.A379_splice	PPM1B_uc002rtu.3_3'UTR|PPM1B_uc002rtv.3_Splice_Site_p.A92_splice|PPM1B_uc002rtw.3_Intron|PPM1B_uc002rtx.3_Intron	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	379					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393000														86			3		0	0	0.004672	0	0
XIRP1	165904	broad.mit.edu	37	3	39227360	39227360	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	uc003cjk.2	-	1	3806	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1193W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1193							actin binding	p.R1193W(2)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677000														39			5		0	0	0.021553	0	0
DOCK1	1793	broad.mit.edu	37	10	128850979	128850979	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	uc010qun.2	+	21	2300	c.2236G>A	c.(2236-2238)Ggt>Agt	p.G746S	DOCK1_uc001ljt.3_Missense_Mutation_p.G725S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	725					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.G725C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTACGTGGACGGTGCTGAGAA	0.433000														97			3		0	0	0.014758	0	0
HCAR1	27198	broad.mit.edu	37	12	123214713	123214713	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:123214713G>A	uc001ucz.3	-	0	417	c.174C>T	c.(172-174)gcC>gcT	p.A58A	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	58					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AATCAGCCACGGCCAAATTGA	0.542000														26			19		0	0	0.055883	0	0
HVCN1	84329	broad.mit.edu	37	12	111099098	111099098	+	Silent	SNP	G	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	uc001trs.1	-	3	342	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_uc001trq.1_Silent_p.P59P|HVCN1_uc001trt.1_Silent_p.P59P|HVCN1_uc010syd.1_Silent_p.P39P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	59					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622000														64			23		0	0	0.083992	0	0
F5	2153	broad.mit.edu	37	1	169524423	169524423	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	uc001ggg.1	-	6	1260	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	372	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468000														183			30		0	0	0.050027	0	0
MIDN	90007	broad.mit.edu	37	19	1255053	1255053	+	Silent	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	uc002lrp.3	+	5	1364	c.849C>T	c.(847-849)acC>acT	p.T283T		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	283						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAGGGACCTTCTCTGGTA	0.617000														92			5		0	0	0.029380	0	0
LTBR	4055	broad.mit.edu	37	12	6499942	6499942	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	uc001qny.1	+	9	1315	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_uc010sfc.1_Missense_Mutation_p.E364K|LTBR_uc001qnz.1_Missense_Mutation_p.E378K	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	383					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612000														139			5		0	0	0.029380	0	0
NPSR1	387129	broad.mit.edu	37	7	34724169	34724169	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	uc003teh.1	+	1	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.E51E|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.E51E|NPSR1_uc003tei.1_Silent_p.E51E|NPSR1_uc010kww.1_Silent_p.E51E|NPSR1_uc011kar.1_Silent_p.E51E	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	51						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCAGACTGAGCAATTGATAA	0.433000														60			34		0	0	0.069456	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600575	13600575	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:13600575T>C	uc003gmz.1	-	9	8066	c.7949A>G	c.(7948-7950)gAc>gGc	p.D2650G	BOD1L1_uc010idr.1_Missense_Mutation_p.D1987G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2650							DNA binding										CTCACCTATGTCACACACATT	0.378000														95			3		0	0	0.004672	0	0
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	uc002otf.1	+	19	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627000			"""Mis, F, S"""		oligodendroglioma									25			52		2.53126e-37	2.84767e-37	0.048971	1	0
CYP2C19	1557	broad.mit.edu	37	10	96602618	96602618	+	Missense_Mutation	SNP	G	A	A	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	uc010qnz.2	+	6	986	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_uc010qny.2_Missense_Mutation_p.R307H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	329			R -> H (in allele CYP2C19*18).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATTGAACGTGTCGTTGGC	0.498000														134			16		0	0	0.055883	0	0
FHL5	9457	broad.mit.edu	37	6	97053913	97053913	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	uc003pos.2	+	4	886	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_uc003pot.2_Missense_Mutation_p.K157R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	157	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383000														55			7		0	0	0.058154	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28302301	28302301	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	uc002ymg.3	-	6	2858	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	710	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCAATGATGCCGTCACAGCC	0.473000														436			9		0	0	0.080935	0	0
C8orf80	389643	broad.mit.edu	37	8	27891083	27891083	+	Silent	SNP	G	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:27891083G>T	uc003xgm.4	-	13	1886	c.1743C>A	c.(1741-1743)atC>atA	p.I581I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	581						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		AAACAGGGTCGATCTGGTCAT	0.453000														38			3		1.23904e-05	1.32304e-05	0.014758	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									42			31		0	0	0.069456	0	0
CFHR1	3078	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	uc001gtl.3	+	2	476	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.T130M|CFHR1_uc010poy.2_Missense_Mutation_p.T130M|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	130	Sushi 2.				complement activation	extracellular space		p.T130M(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTACATGTACGGAGAAAGGC	0.473000														58			36		0	0	0.086207	0	0
CA11	770	broad.mit.edu	37	19	49143394	49143394	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	uc002pjz.1	-	3	991	c.429C>T	c.(427-429)gcC>gcT	p.A143A	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	143						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GTTCCGAGCCGGCTCCGTCGC	0.607000														79			6		0	0	0.021553	0	0
STRAP	11171	broad.mit.edu	37	12	16036493	16036493	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	uc010shw.2	+	2	524	c.170G>A	c.(169-171)cGc>cAc	p.R57H	STRAP_uc001rdc.4_Missense_Mutation_p.R44H|STRAP_uc001rdd.4_Intron	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	44					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358000														53			3		0	0	0.009096	0	0
SCN3A	6328	broad.mit.edu	37	2	165948831	165948831	+	Silent	SNP	G	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	uc002ucx.3	-	26	5232	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_uc010zcy.2_Silent_p.L63L|SCN3A_uc002ucy.3_Silent_p.L1531L|SCN3A_uc002ucz.3_Silent_p.L1531L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGTGTCTGAGGGAGACGA	0.438000														54			35		0	0	0.080422	0	0
EPB49	2039	broad.mit.edu	37	8	21927431	21927431	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:21927431C>T	uc022asw.1	+	5	472	c.434C>T	c.(433-435)cCc>cTc	p.P145L	EPB49_uc022asq.1_Missense_Mutation_p.P145L|EPB49_uc011kys.1_Missense_Mutation_p.P105L|EPB49_uc022asr.1_Missense_Mutation_p.P145L|EPB49_uc022ass.1_Missense_Mutation_p.P120L|EPB49_uc022ast.1_Missense_Mutation_p.P145L|EPB49_uc022asu.1_Missense_Mutation_p.P145L|EPB49_uc022asv.1_Missense_Mutation_p.P145L|EPB49_uc022asx.1_Missense_Mutation_p.P145L|EPB49_uc022asy.1_Missense_Mutation_p.P120L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	145					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AAGAAGCCTCCCATCTATAAG	0.642000														122			7		0	0	0.029380	0	0
UBC	7316	broad.mit.edu	37	12	125397147	125397147	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	uc001ugs.4	-	1	1629	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.K391E	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	391	Ubiquitin-like 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGATGGTCTTACCAGTCAGG	0.527000														510			36		0	0	0.111260	0	0
OR52B6	340980	broad.mit.edu	37	11	5603034	5603034	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	uc010qzi.2	+	0	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P309L(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443000														82			60		0	0	0.048971	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859857	54859857	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	uc002rxu.3	+	16	3968	c.3719A>G	c.(3718-3720)aAc>aGc	p.N1240S	SPTBN1_uc002rxx.3_Missense_Mutation_p.N1227S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1240					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGATGGGAACATCAACTCA	0.507000														51			3		0	0	0.009096	0	0
EYA4	2070	broad.mit.edu	37	6	133783471	133783471	+	Splice_Site	SNP	A	T	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	uc011ecs.2	+	8	754	c.438_splice	c.e8-2	p.K146_splice	EYA4_uc011ecq.2_Splice_Site_p.K92_splice|EYA4_uc011ecr.2_Splice_Site_p.K92_splice|EYA4_uc003qec.4_Splice_Site_p.K146_splice|EYA4_uc003qed.4_Splice_Site_p.K146_splice|EYA4_uc003qee.4_Splice_Site_p.K123_splice|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	146					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438000														176			24		0	0	0.041601	0	0
TRIML1	339976	broad.mit.edu	37	4	189061052	189061052	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	uc003izm.1	+	0	455	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	114					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622000														48			3		0	0	0.004672	0	0
ATG9A	79065	broad.mit.edu	37	2	220088460	220088460	+	Silent	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	uc002vke.1	-	9	1632	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.S482S	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	482					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane		p.L481M(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAATGGGGCTCAGCAACT	0.577000														70			4		0	0	0.021553	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13939496	13939496	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	uc002mxh.1	+	11	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_uc010xng.1_Missense_Mutation_p.R612Q	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	689							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTGGCGGCGGAGGGAGATG	0.622000														165			4		0	0	0.021553	0	0
FUBP1	8880	broad.mit.edu	37	1	78430643	78430643	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	uc001dii.3	-	8	736	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.G237fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"""F, N"""		oligodendroglioma								---	33	---	---	44	---					
TRIP12	9320	broad.mit.edu	37	2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	uc002vpx.1	-	37	5567_5568	c.5458_5459delAG	c.(5458-5460)agtfs	p.S1820fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.S1805fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.S1502fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.S1772fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1772					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.E1819*(1)|p.E1819V(1)|p.E1819L(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATACTGTAGACTCTCTTTGGTC	0.361													---	64	---	---	44	---					
ARID1B	57492	broad.mit.edu	37	6	157469999	157469999	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	uc003qqp.3	+	7	2754	c.2754delG	c.(2752-2754)atgfs	p.M918fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.M931fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.M918fs|ARID1B_uc003qqq.1_Frame_Shift_Del_p.M302fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	918					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587													---	62	---	---	31	---					
LPAL2	80350	broad.mit.edu	37	6	160887595	160887595	+	RNA	DEL	T	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:160887595delT	uc003qtj.2	-	9		c.1960delA								Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTGGCTTACAtttttttttat	0.398													---	4	---	---	2	---					
GRB10	2887	broad.mit.edu	37	7	50686874	50686874	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	uc003tpi.2	-	5	816	c.770delA	c.(769-771)aatfs	p.N257fs	GRB10_uc003tph.3_Frame_Shift_Del_p.N199fs|GRB10_uc003tpj.2_Frame_Shift_Del_p.N257fs|GRB10_uc003tpk.2_Frame_Shift_Del_p.N257fs|GRB10_uc010kzb.2_Frame_Shift_Del_p.N199fs|GRB10_uc003tpl.2_Frame_Shift_Del_p.N251fs|GRB10_uc003tpm.2_Frame_Shift_Del_p.N199fs	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	257					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome				---	31	---	---	20	---					
SIAH1	6477	broad.mit.edu	37	16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	uc021ths.1	-	0	116_117	c.116_117delTT	c.(115-117)tttfs	p.F39fs	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Frame_Shift_Del_p.F70fs|SIAH1_uc002efo.1_Frame_Shift_Del_p.F39fs|LOC100507577_uc021tht.1_Non-coding_Transcript	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	39					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.510													---	102	---	---	7	---					
TBX2	6909	broad.mit.edu	37	17	59482747	59482748	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	uc010wox.2	+	5	1517_1518	c.1236_1237insG	c.(1234-1239)ggcgggfs	p.G412fs	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Frame_Shift_Ins_p.G258fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	412					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748													---	4	---	---	2	---					
OR7A17	26333	broad.mit.edu	37	19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	uc010xob.2	-	0	884_885	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436													---	87	---	---	20	---					
PMEPA1	56937	broad.mit.edu	37	20	56284593	56284595	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr20:56284593_56284595delCGG	uc002xyq.3	-	0	437_439	c.44_46delCCG	c.(43-48)gccggg>ggg	p.A15del	PMEPA1_uc002xyr.3_Intron|PMEPA1_uc002xys.3_Intron|PMEPA1_uc002xyt.3_Intron|AK056098_uc002xyu.1_5'Flank	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	15					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TTGGGCTgcccggcggcggcggc	0.734													---	7	---	---	4	---					
