Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC35G5	83650	broad.mit.edu	37	8	11189480	11189480	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:11189480G>A	ENST00000382435.4	+	1	1084	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	289	DUF6 2.					integral to membrane											CCTGCATTCCGAGGTGGTTGT	0.582000													37	178					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100175384	100175384	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	ENST00000317233.4	-	21	3473	c.3238A>G	c.(3238-3240)Agg>Ggg	p.R1080G	AFF3_ENST00000409236.1_Missense_Mutation_p.R1080G|AFF3_ENST00000409579.1_Missense_Mutation_p.R1105G|AFF3_ENST00000356421.2_Missense_Mutation_p.R1105G	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1080					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483000											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	92					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	55					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043903	62043903	+	Splice_Site	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	ENST00000578147.1	-	7	1114	c.1036_splice	c.e7-1	p.G346_splice	SCN4A_ENST00000435607.1_Splice_Site_p.G346_splice			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582000													8	39					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797874	131797874	+	Missense_Mutation	SNP	G	G	A	rs117266463	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	ENST00000392953.3	+	8	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S251N|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.S322N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S322N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	322	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682000													3	47					0	0	1	0	0
PCDHA13	0	broad.mit.edu	37	5	140263554	140263554	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	ENST00000289272.2	+	1	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.T567T|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGACGCCCGGGGCTG	0.711000													6	146					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688556	26688556	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	ENST00000272371.2	-	38	4909	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_ENST00000403946.3_Missense_Mutation_p.A1595T|OTOF_ENST00000402415.3_Missense_Mutation_p.A905T|OTOF_ENST00000339598.3_Missense_Mutation_p.A828T|OTOF_ENST00000338581.6_Missense_Mutation_p.A828T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1595					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582000													5	131					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972673	25972673	+	Silent	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	ENST00000435504.4	-	12	2045	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_ENST00000336112.4_Silent_p.R556R|ASXL2_ENST00000272341.4_Silent_p.R324R|ASXL2_ENST00000404843.1_Silent_p.R324R			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACGTGGCCTCTTCTCCC	0.532000													9	28					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100897160	100897160	+	Silent	SNP	C	C	T	rs147316581	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	ENST00000343933.5	-	4	653	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_ENST00000375077.4_Silent_p.A132A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.A132A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602000													25	42					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	ENST00000572681.2	+	20	7198	c.7130G>A	c.(7129-7131)cGg>cAg	p.R2377Q	CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					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)				GACCAGCGCCGGGCCCTGGTC	0.612000			"""Mis, F, S"""		oligodendroglioma								17	67					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67688719	67688719	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	ENST00000334583.6	+	32	3949	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_ENST00000545661.1_Silent_p.P1171P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1207										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACTGGCTCCATCCTTTGAAC	0.622000													54	154					0	0	1	0	0
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587000											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	68					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905237	9905237	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	ENST00000380913.3	+	7	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_ENST00000418909.2_Silent_p.S52S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1217					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCGTGCACTCGGAGAGCCAGC	0.587000													5	17					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552000													3	76					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684252	48684252	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	ENST00000544264.1	-	22	7534	c.7254C>T	c.(7252-7254)taC>taT	p.Y2418Y	CELSR3_ENST00000164024.4_Silent_p.Y2413Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2413					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGTGCGGTAAACGAGGA	0.602000													3	44					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134455699	134455699	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	ENST00000372195.1	-	23	3328	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R1012W|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R1030W			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1012	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCTGCCACCGCTTGGAGAAG	0.632000													25	44					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37268386	37268386	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	ENST00000233099.5	-	19	2841	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L916V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAACAACCAAGAGCCAATGAA	0.418000													32	56					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15365420	15365420	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	ENST00000297904.3	-	6	1233	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473000													12	104					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832652	79832652	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	ENST00000335016.5	+	16	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	984						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502000													3	63					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110953281	110953281	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	ENST00000368911.3	-	6	777	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_ENST00000413605.2_Missense_Mutation_p.R76W|CDK19_ENST00000323817.3_Missense_Mutation_p.R140W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	200	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358000													8	87					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													4	171					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812973	52812973	+	Silent	SNP	C	C	T	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	ENST00000273283.2	+	4	345	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_ENST00000542827.1_Silent_p.N107N|ITIH1_ENST00000540715.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	107	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGATGGAAACGCATTTATCG	0.547000													18	67					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								23	44					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10533673	10533673	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	ENST00000583535.1	-	37	5476	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C	MYH3_ENST00000226209.7_Missense_Mutation_p.R1797C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1797					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTAGACGATGCTGCAGG	0.607000													17	157					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	71					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760876	62760876	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:62760876G>A	ENST00000311438.8	-	9	1548	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000430500.2_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	517					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACTGATGGGGCCAGAGGCA	0.612000													33	63					0	0	1	0	0
CXCR3	0	broad.mit.edu	37	X	70837109	70837109	+	Silent	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	ENST00000373691.4	-	2	517	c.354C>T	c.(352-354)aaC>aaT	p.N118N	CXCR3_ENST00000373693.3_Silent_p.N71N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	71					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667000													3	14					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	71992346	71992346	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	ENST00000303068.7	+	0	360				FAM189A2_ENST00000257515.8_Missense_Mutation_p.A105T|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A105T			Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane		p.A105T(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557000													4	142					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89730624	89730624	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	ENST00000343435.5	-	8	1430	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_ENST00000370459.3_Silent_p.Y298Y|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	298						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448000													31	18					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2																						ACCAGCGGCTTGTAGTACACA	0.627000													4	78					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427079	65427079	+	Silent	SNP	T	T	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	ENST00000519389.1	+	14	2675	c.2496T>A	c.(2494-2496)ggT>ggA	p.G832G	HEPH_ENST00000419594.1_Silent_p.G589G|HEPH_ENST00000374727.3_Silent_p.G781G|HEPH_ENST00000441993.2_Silent_p.G781G|HEPH_ENST00000336279.5_Silent_p.G511G|HEPH_ENST00000343002.2_Silent_p.G778G			Q9BQS7	HEPH_HUMAN	hephaestin	778	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463000													8	37					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557000													5	97					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	ENST00000414626.2	+	14	3180	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R784H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333000													18	28					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897045	29897045	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	ENST00000308713.5	-	8	1761	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P368S|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P342S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P298S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	412	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602000													16	74					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000													8	402					0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578623	37578623	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	ENST00000337843.2	-	3	517	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V148M|C1QTNF6_ENST00000470655.1_Splice_Site|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Splice_Site	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	129	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657000													4	84					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88854091	88854091	+	Silent	SNP	A	A	G			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	ENST00000537554.1	-	2	4465	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_ENST00000549890.1_Silent_p.A301A|CNR1_ENST00000549716.1_Silent_p.A240A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A301A|CNR1_ENST00000535130.1_Silent_p.A301A|CNR1_ENST00000369499.2_Silent_p.A301A|CNR1_ENST00000369501.2_Silent_p.A301A|CNR1_ENST00000468898.1_Silent_p.A268A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	301					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537000													11	80					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45713342	45713342	+	Silent	SNP	C	C	T			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	ENST00000305560.6	+	8	2295	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	732						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353000													7	22					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46497240	46497240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	ENST00000361297.2	+	24	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S987*|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1057					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAGCCCTCTCACTCCTCATT	0.607000													3	42					0.00909568	0.00909568	1	1	0
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)cccfs	p.P289fs	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs|FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495													7	328	---	---	---	---					
CTD-2547L16.1	0	broad.mit.edu	37	8	17946059	17946060	+	RNA	INS	-	-	T	rs142591230		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:17946059_17946060insT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							CGTGAACACTCttttttttttt	0.441													4	6	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													7	249	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)ggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													8	273	---	---	---	---					
LINC00933	0	broad.mit.edu	37	15	85115423	85115425	+	RNA	DEL	TTT	TTT	-			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:85115423_85115425delTTT	ENST00000557887.1	+	0	1_3					NR_038273.1|NR_038274.1																						CATAATGCTCttttttttttttt	0.394													2	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													5	11	---	---	---	---