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
FOXR2	139628	broad.mit.edu	37	X	55650340	55650340	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:55650340A>T	ENST00000339140.3	+	1	508	c.196A>T	c.(196-198)Agt>Tgt	p.S66C		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	66					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGAGACCCAGTCCTGATGG	0.557000													45	53					0	0	0.139131	0	0
OR8B2	26595	broad.mit.edu	37	11	124252875	124252875	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:124252875C>A	ENST00000375013.2	-	1	383	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGATCATATGC	0.413000													41	33					1.15183e-24	1.41892e-24	0.111260	1	0
KCNB2	9312	broad.mit.edu	37	8	73849938	73849938	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:73849938G>T	ENST00000523207.1	+	3	2936	c.2348G>T	c.(2347-2349)gGg>gTg	p.G783V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	783					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTCCAAAGGGCTGTCCCCC	0.522000													54	65					4.44712e-29	5.67008e-29	0.139131	1	0
SERPINA3	12	broad.mit.edu	37	14	95090116	95090116	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr14:95090116T>C	ENST00000553947.1	+	8	2200	c.1312T>C	c.(1312-1314)Ttc>Ctc	p.F438L	SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L|SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	413					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACATCTTCTTCATGAGCAA	0.498000													72	127					0	0	0.139131	0	0
TUSC3	7991	broad.mit.edu	37	8	15605885	15605885	+	Splice_Site	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:15605885A>T	ENST00000382020.4	+	9	1147	c.937_splice	c.e9-1	p.I313_splice	TUSC3_ENST00000503731.1_Splice_Site_p.I313_splice|TUSC3_ENST00000506802.1_Intron	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	313					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGTTTCTAGTAATTTGCCTAG	0.328000													122	120					0	0	0.139131	0	0
KIF1B	23095	broad.mit.edu	37	1	10435101	10435101	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:10435101G>A	ENST00000377086.1	+	47	5488	c.5286G>A	c.(5284-5286)gtG>gtA	p.V1762V	KIF1B_ENST00000263934.6_Silent_p.V1716V|KIF1B_ENST00000377081.1_Silent_p.V1762V			O60333	KIF1B_HUMAN	kinesin family member 1B	1762	PH.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGGCCATGGTGAAGGTCCGTC	0.493000													49	28					0	0	0.139131	0	0
TEX15	56154	broad.mit.edu	37	8	30699765	30699765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:30699765G>A	ENST00000256246.2	-	1	6843	c.6769C>T	c.(6769-6771)Caa>Taa	p.Q2257*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2257										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TACAGCATTTGGCATAGGAAA	0.303000													49	54					0	0	0.139131	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846939	47846939	+	Silent	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:47846939T>A	ENST00000339488.4	-	3	1674	c.1641A>T	c.(1639-1641)gcA>gcT	p.A547A		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	547						integral to membrane	hedgehog receptor activity										CCCAGGACACTGCAGTGAATC	0.468000													26	14					0	0	0.125774	0	0
FAM47C	442444	broad.mit.edu	37	X	37028942	37028942	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:37028942G>T	ENST00000358047.3	+	1	2511	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	820										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCAAGACCGGAGCGTCCCAT	0.547000													53	66					5.22555e-25	6.46853e-25	0.139131	1	0
XIRP2	129446	broad.mit.edu	37	2	168106972	168106972	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:168106972G>T	ENST00000409195.1	+	9	9159	c.9070G>T	c.(9070-9072)Gtg>Ttg	p.V3024L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2802L|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3024L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2849					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATATGCTTGTGTCCTATGA	0.343000													130	150					9.11594e-60	1.27025e-59	0.139131	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99339876	99339876	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:99339876G>T	ENST00000408927.3	+	10	1221	c.1108G>T	c.(1108-1110)Gta>Tta	p.V370L	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	370							binding|GTPase activator activity	p.V371L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGACAGACATGTAGAAGATGG	0.378000			T	NUP98	T-ALL								4	94					0.0293803	0.0314789	0.029380	1	0
HMGN2P46	283651	broad.mit.edu	37	15	45847914	45847914	+	RNA	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:45847914T>A	ENST00000409454.1	+	0	909																											CAAGGTTAAGTAGGAACTGCA	0.537000													28	51					0	0	0.134883	0	0
BMP3	651	broad.mit.edu	37	4	81967347	81967347	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:81967347A>G	ENST00000282701.2	+	2	1092	c.772A>G	c.(772-774)Agc>Ggc	p.S258G		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	258					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGTGGTATCAAGCTTACAGGG	0.507000													54	59					0	0	0.139131	0	0
ACOT12	134526	broad.mit.edu	37	5	80655735	80655735	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:80655735A>G	ENST00000307624.3	-	5	511	c.483T>C	c.(481-483)agT>agC	p.S161S	ACOT12_ENST00000513751.1_Silent_p.S161S	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	161					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAATTTGCTACTTTCCTTCA	0.333000													57	1					0	0	0.139131	0	0
RABGAP1	23637	broad.mit.edu	37	9	125852587	125852587	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:125852587A>T	ENST00000373647.4	+	21	2685	c.2551A>T	c.(2551-2553)Agg>Tgg	p.R851W	RABGAP1_ENST00000373643.5_Missense_Mutation_p.R190W	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	851					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGCTAACATGAGGTTGGAACA	0.463000													3	43					0	0	0.009096	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649784	75649784	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:75649784C>A	ENST00000361470.2	+	1	1739	c.1461C>A	c.(1459-1461)ccC>ccA	p.P487P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	487						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTGAAGCCCCAAGACCCTA	0.502000													22	24					1.50039e-11	1.69292e-11	0.062417	1	0
NLRP3	114548	broad.mit.edu	37	1	247587297	247587297	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:247587297G>A	ENST00000366497.2	+	4	1332	c.552G>A	c.(550-552)gaG>gaA	p.E184E	NLRP3_ENST00000348069.2_Silent_p.E184E|NLRP3_ENST00000336119.3_Silent_p.E184E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.E184E|NLRP3_ENST00000366496.2_Silent_p.E184E|NLRP3_ENST00000391828.3_Silent_p.E184E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	184					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGAGGGAGCAGGAGCTTC	0.562000													21	38					0	0	0.076483	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302222	42302222	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:42302222G>A	ENST00000342228.3	-	6	1041	c.672C>T	c.(670-672)ctC>ctT	p.L224L	SLC20A2_ENST00000520262.1_Silent_p.L224L|SLC20A2_ENST00000520179.1_Silent_p.L224L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	224					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGCGAACAGGAGGGCGACAC	0.488000													14	28					0	0	0.119110	0	0
PIBF1	10464	broad.mit.edu	37	13	73539483	73539483	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr13:73539483G>C	ENST00000326291.6	+	15	2243	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	635						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAGTGCGTCAGAGAGATTCTA	0.353000													26	0					0	0	0.108266	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375122	149375122	+	RNA	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:149375122T>A	ENST00000415338.1	-	0	1061																											GCAAAGCCTTTAAGTTTTTCC	0.453000													71	186					0	0	0.139131	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745306	37745306	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:37745306G>C	ENST00000539465.1	+	16	3870	c.3277G>C	c.(3277-3279)Gag>Cag	p.E1093Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1093Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1093						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAATCCAGGAGAGAAGATAGC	0.403000													49	56					0	0	0.139131	0	0
EPO	2056	broad.mit.edu	37	7	100319219	100319219	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:100319219T>A	ENST00000252723.2	+	2	233	c.52T>A	c.(52-54)Tcg>Acg	p.S18T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	18					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GTCCCTGCTGTCGCTCCCTCT	0.632000													4	8					0	0	0.021553	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725742	12725742	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:12725742G>A	ENST00000380682.1	+	13	1948	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	481	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCTTGGTGCGGGTAGAACTC	0.473000													83	92					0	0	0.139131	0	0
FAM167A	83648	broad.mit.edu	37	8	11282067	11282067	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:11282067C>T	ENST00000284486.4	-	3	998	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	FAM167A_ENST00000531564.1_5'UTR|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000528897.1_Missense_Mutation_p.E154K|C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000534308.1_Missense_Mutation_p.E154K	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	154										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CAGGTGTGTTCGATTTTCAGC	0.622000													24	21					0	0	0.083992	0	0
DENND2A	27147	broad.mit.edu	37	7	140285473	140285473	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:140285473C>A	ENST00000275884.6	-	4	1578	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	DENND2A_ENST00000537639.1_Missense_Mutation_p.E387D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E387D|DENND2A_ENST00000492720.1_Missense_Mutation_p.E387D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	387										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACCATGTAACTCGATGTCCT	0.493000													100	114					9.99625e-28	1.25569e-27	0.139131	1	0
KMT2C	58508	broad.mit.edu	37	7	151864259	151864259	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:151864259T>C	ENST00000355193.2	-	42	9940	c.9722A>G	c.(9721-9723)cAa>cGa	p.Q3241R	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q3241R					lysine (K)-specific methyltransferase 2C																		AACCATGCTTTGCTGTTCAGT	0.388000													90	112					0	0	0.139131	0	0
FRG2B	441581	broad.mit.edu	37	10	135440217	135440217	+	Silent	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:135440217G>C	ENST00000443774.1	-	1	79	c.30C>G	c.(28-30)ctC>ctG	p.L10L	FRG2B_ENST00000425520.1_Silent_p.L10L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	10						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGGAGCAGTGGAGATCGGGGT	0.498000													38	165					0	0	0.139131	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625067	43625067	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:43625067G>T	ENST00000332857.6	-	4	3648	c.3620C>A	c.(3619-3621)aCg>aAg	p.T1207K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.T1207M(1)									TCCAACTGCCGTCATGAGACC	0.468000													102	94					2.17066e-49	2.94424e-49	0.139131	1	0
FAM50A	9130	broad.mit.edu	37	X	153674843	153674843	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:153674843A>T	ENST00000393600.3	+	4	487	c.377A>T	c.(376-378)gAg>gTg	p.E126V		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	126					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCTggaggaggaagaagag	0.607000													7	4					0	0	0.058154	0	0
MUL1	79594	broad.mit.edu	37	1	20827905	20827905	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:20827905A>T	ENST00000264198.3	-	4	473	c.337T>A	c.(337-339)Tgc>Agc	p.C113S		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	113					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ATCTTTGAGCAATCATTCCTA	0.498000													10	19					0	0	0.069234	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198307	170198307	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:170198307G>T	ENST00000231706.4	-	7	2079	c.1764C>A	c.(1762-1764)gaC>gaA	p.D588E	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	588						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTGAGATGTAGTCAGAACCAA	0.557000													4	127					0.00909568	0.00982796	0.009096	1	0
ZNF44	51710	broad.mit.edu	37	19	12383596	12383596	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:12383596A>C	ENST00000356109.5	-	5	1736	c.1618T>G	c.(1618-1620)Tgt>Ggt	p.C540G	ZNF44_ENST00000355684.5_Missense_Mutation_p.C492G	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCATGGCGACAAAAGTATTTA	0.358000													30	23					0	0	0.050027	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661455	113661455	+	RNA	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:113661455C>T	ENST00000393544.2	+	0	1503																											AGACGGTGAACCCAATTGGCC	0.527000													51	68					0	0	0.139131	0	0
NCOA3	8202	broad.mit.edu	37	20	46265192	46265192	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr20:46265192T>G	ENST00000372004.3	+	12	2278	c.2062T>G	c.(2062-2064)Ttg>Gtg	p.L688V	NCOA3_ENST00000371997.3_Missense_Mutation_p.L698V|NCOA3_ENST00000371998.3_Missense_Mutation_p.L688V|NCOA3_ENST00000341724.6_Missense_Mutation_p.L698V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	688					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTGCACAAGTTGCTGCAGAA	0.493000													41	59					0	0	0.092188	0	0
PEX5	5830	broad.mit.edu	37	12	7361712	7361712	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:7361712G>A	ENST00000266563.5	+	13	1578	c.1395G>A	c.(1393-1395)ggG>ggA	p.G465G	PEX5_ENST00000434354.2_Silent_p.G517G|PEX5_ENST00000455147.2_Silent_p.G502G|PEX5_ENST00000266564.3_Silent_p.G494G|PEX5_ENST00000412720.2_Silent_p.G523G|PEX5_ENST00000420616.2_Silent_p.G502G	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	502					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACCTGAGTGGGGAGTATGACA	0.552000													54	42					0	0	0.139131	0	0
SPTA1	6708	broad.mit.edu	37	1	158607871	158607871	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:158607871G>T	ENST00000368148.3	-	36	5321	c.5141C>A	c.(5140-5142)gCc>gAc	p.A1714D	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1714D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1714					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGAACAAGGCATAGGCCTC	0.413000													92	210					5.00475e-40	6.68173e-40	0.139131	1	0
PTGFRN	5738	broad.mit.edu	37	1	117509848	117509848	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:117509848T>G	ENST00000393203.2	+	6	2102	c.1955T>G	c.(1954-1956)cTg>cGg	p.L652R	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	652	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACGCAGGGCTGTACCGCTGC	0.532000													93	92					0	0	0.139131	0	0
SYCP2	10388	broad.mit.edu	37	20	58467212	58467212	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr20:58467212T>C	ENST00000357552.3	-	24	2422	c.2197A>G	c.(2197-2199)Att>Gtt	p.I733V	SYCP2_ENST00000371001.2_Missense_Mutation_p.I733V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	733					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATTCTTCAATTGTCTTATTT	0.343000													118	114					0	0	0.139131	0	0
GAS7	8522	broad.mit.edu	37	17	9821344	9821344	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:9821344G>A	ENST00000396115.1	-	13	1421	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	GAS7_ENST00000579158.1_Missense_Mutation_p.H383Y|GAS7_ENST00000585266.1_Missense_Mutation_p.H367Y|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.H367Y|GAS7_ENST00000432992.2_Missense_Mutation_p.H431Y|GAS7_ENST00000542249.1_Missense_Mutation_p.H376Y|GAS7_ENST00000580865.1_Missense_Mutation_p.H291Y|GAS7_ENST00000540214.1_Missense_Mutation_p.H136Y|GAS7_ENST00000323816.4_Missense_Mutation_p.H367Y	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	431					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCTGTTTCATGCCGCAGCTGC	0.637000			T	MLL	AML*								39	2					0	0	0.092188	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667501	33667501	+	Silent	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:33667501G>C	ENST00000321505.4	+	16	4968	c.4788G>C	c.(4786-4788)ggG>ggC	p.G1596G	KIAA1549L_ENST00000389726.3_Silent_p.G1602G					KIAA1549-like																		GCGCTCCGGGGACCATGACGC	0.677000													8	0					0	0	0.047766	0	0
FERD3L	222894	broad.mit.edu	37	7	19184854	19184854	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:19184854A>G	ENST00000275461.3	-	1	190	c.132T>C	c.(130-132)ctT>ctC	p.L44L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	44					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CTCGGAGCGCAAGGGCTGGGT	0.662000													4	148					0	0	0.014758	0	0
ZNF839	55778	broad.mit.edu	37	14	102798180	102798180	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr14:102798180G>A	ENST00000262236.5	+	3	1420	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	ZNF839_ENST00000558850.1_Silent_p.K355K|ZNF839_ENST00000442396.2_Silent_p.K471K|ZNF839_ENST00000559185.1_Silent_p.K355K	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	355						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCAGGCTCAAGGAGGTACCTC	0.557000													4	9					0	0	0.021553	0	0
SMYD5	10322	broad.mit.edu	37	2	73446058	73446058	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:73446058G>T	ENST00000389501.4	+	2	211	c.166G>T	c.(166-168)Gct>Tct	p.A56S	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	56							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCCCTGGTGGCTGCACAGTT	0.552000													14	13					1.5739e-10	1.76028e-10	0.146539	1	0
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:113170491G>C	ENST00000401783.2	-	38	7725	c.7389C>G	c.(7387-7389)ctC>ctG	p.L2463L	SVEP1_ENST00000374469.1_Silent_p.L2440L|SVEP1_ENST00000297826.5_Silent_p.L389L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478000													11	20					0	0	0.093190	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171851	146171851	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:146171851C>G	ENST00000497985.1	-	7	1079	c.640G>C	c.(640-642)Gat>Cat	p.D214H	PLSCR2_ENST00000336685.2_Missense_Mutation_p.D141H	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	141					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTAGTACATCCTCTCTTTTC	0.378000													33	93					0	0	0.069456	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649783	75649783	+	Missense_Mutation	SNP	C	C	A	rs143682541	byFrequency	TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:75649783C>A	ENST00000361470.2	+	1	1738	c.1460C>A	c.(1459-1461)cCc>cAc	p.P487H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	487						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACCCTGAAGCCCCAAGACCCT	0.507000													22	24					1.10513e-12	1.26372e-12	0.069288	1	0
CSMD3	114788	broad.mit.edu	37	8	113421176	113421176	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:113421176C>A	ENST00000297405.5	-	33	5725	c.5481G>T	c.(5479-5481)ctG>ctT	p.L1827L	CSMD3_ENST00000455883.2_Silent_p.L1723L|CSMD3_ENST00000343508.3_Silent_p.L1787L|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1827	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGAAGATAACAGAGAAGATT	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			112	161					1.22322e-63	1.71385e-63	0.139131	1	0
FCGR2A	2212	broad.mit.edu	37	1	161476251	161476251	+	Silent	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:161476251T>C	ENST00000271450.6	+	3	272	c.234T>C	c.(232-234)aaT>aaC	p.N78N	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.N77N	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	78	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGTTCCACAATGGGAATCTCA	0.592000													63	39					0	0	0.139131	0	0
PLA2G5	5322	broad.mit.edu	37	1	20416369	20416369	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:20416369G>A	ENST00000375108.3	+	4	541	c.273G>A	c.(271-273)gcG>gcA	p.A91A	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	91					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.A91A(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ACAGATTCGCGTGGGGCGTGG	0.587000													14	30					0	0	0.105934	0	0
PLD2	5338	broad.mit.edu	37	17	4713045	4713045	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:4713045G>T	ENST00000263088.6	+	8	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	PLD2_ENST00000572940.1_Missense_Mutation_p.G225V	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	225	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCTGCTGTGGCCGAGACCAA	0.597000													59	5					4.45325e-31	5.76436e-31	0.139131	1	0
PTPRB	5787	broad.mit.edu	37	12	70974895	70974895	+	Silent	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:70974895G>T	ENST00000334414.6	-	10	2543	c.2499C>A	c.(2497-2499)tcC>tcA	p.S833S	PTPRB_ENST00000551525.1_Silent_p.S832S|PTPRB_ENST00000550857.1_Silent_p.S525S|PTPRB_ENST00000550358.1_Silent_p.S833S|PTPRB_ENST00000538708.1_Silent_p.S615S|PTPRB_ENST00000261266.5_Silent_p.S615S|PTPRB_ENST00000451516.2_Silent_p.S525S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	615	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGGCTGCCGGACTTGAGAG	0.453000													41	46					5.05997e-48	6.82694e-48	0.139131	1	0
DHRS2	10202	broad.mit.edu	37	14	24108203	24108203	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr14:24108203T>G	ENST00000250383.6	+	2	606	c.130T>G	c.(130-132)Tcc>Gcc	p.S44A	DHRS2_ENST00000344777.7_Missense_Mutation_p.S44A|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	22					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGTCACGGGGTCCACCAGTGG	0.602000													24	60					0	0	0.050027	0	0
THSD7B	80731	broad.mit.edu	37	2	137814684	137814684	+	Silent	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:137814684C>G	ENST00000409968.1	+	3	1012	c.834C>G	c.(832-834)acC>acG	p.T278T	THSD7B_ENST00000272643.3_Silent_p.T278T|THSD7B_ENST00000413152.2_Silent_p.T247T|THSD7B_ENST00000543459.1_Silent_p.T137T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTCACCTTTAAACATC	0.403000													54	79					0	0	0.139131	0	0
CA4	762	broad.mit.edu	37	17	58234824	58234824	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:58234824G>A	ENST00000300900.4	+	4	404	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	102					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AGCATTTCTGGAGGAGGACTG	0.577000													71	0					0	0	0.139131	0	0
MPO	4353	broad.mit.edu	37	17	56350206	56350206	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:56350206C>T	ENST00000340482.3	-	9	1967	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	MPO_ENST00000225275.3_Silent_p.V565V			P05164	PERM_HUMAN	myeloperoxidase	565					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGATCTCATCCACTGCAATTT	0.617000													73	3					0	0	0.139131	0	0
FAT4	79633	broad.mit.edu	37	4	126412316	126412316	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:126412316A>G	ENST00000394329.3	+	17	14352	c.14339A>G	c.(14338-14340)gAa>gGa	p.E4780G	FAT4_ENST00000335110.5_Missense_Mutation_p.E3021G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4780					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCCACTGGAATCTTCTCCT	0.532000													43	43					0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048																											CGCTGCAGCTGACTCTGCAGC	0.677000													2	4					0	0	0.115264	0	0
SORCS1	114815	broad.mit.edu	37	10	108716299	108716299	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:108716299C>A	ENST00000263054.6	-	2	605	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	SORCS1_ENST00000344440.6_Missense_Mutation_p.G200W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	200						integral to membrane	neuropeptide receptor activity|protein binding	p.G200W(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTGATGCTCCCCAGGTTATAG	0.403000													38	47					5.20837e-25	6.46853e-25	0.104719	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33667500	33667500	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:33667500G>A	ENST00000321505.4	+	16	4967	c.4787G>A	c.(4786-4788)gGg>gAg	p.G1596E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1602E					KIAA1549-like																		AGCGCTCCGGGGACCATGACG	0.672000													8	0					0	0	0.047766	0	0
SHC3	53358	broad.mit.edu	37	9	91656987	91656987	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:91656987C>T	ENST00000375835.4	-	10	1620	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	438	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CACTGCTGACCGCAGCCGGCC	0.542000													6	98					0	0	0.029380	0	0
GBA	2629	broad.mit.edu	37	1	155206036	155206036	+	Splice_Site	SNP	C	C	T	rs138498426		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:155206036C>T	ENST00000428024.2	-	7	1465	c.963_splice	c.e7+1	p.T321_splice	GBA_ENST00000536770.1_Splice_Site_p.T295_splice|GBA_ENST00000327247.5_Splice_Site_p.T408_splice|GBA_ENST00000427500.2_Splice_Site_p.T359_splice|GBA_ENST00000368373.3_Splice_Site_p.T408_splice	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	408					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGTGGCTTACCGTGATGATGC	0.567000									Gaucher disease type I				21	3					0	0	0.054565	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671821	125671821	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:125671821T>A	ENST00000431078.1	+	24	4241	c.3877T>A	c.(3877-3879)Ttg>Atg	p.L1293M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1293					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAATTGACTTGCAAAACAC	0.433000													87	78					0	0	0.139131	0	0
CBLN1	869	broad.mit.edu	37	16	49315227	49315227	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr16:49315227G>A	ENST00000219197.6	-	1	515	c.150C>T	c.(148-150)gcC>gcT	p.A50A	CBLN1_ENST00000536749.1_Silent_p.A50A	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	50					nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				AGATGCCCAGGGCAGTGCCCG	0.652000													4	15					0	0	0.009096	0	0
LIN7C	55327	broad.mit.edu	37	11	27521053	27521053	+	Silent	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:27521053T>C	ENST00000278193.2	-	4	311	c.291A>G	c.(289-291)ccA>ccG	p.P97P	LIN7C_ENST00000524596.1_Silent_p.P73P	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	97	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTTCTGTTTTTGGTAGCTCAA	0.383000													87	3					0	0	0.139131	0	0
ENOSF1	55556	broad.mit.edu	37	18	683371	683371	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:683371C>A	ENST00000319815.6	-	3	1325	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	ENOSF1_ENST00000251101.7_Missense_Mutation_p.A251S|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A272S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A175S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A169S			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	251					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CGCTGGTTGGCATCCATCATC	0.572000													40	45					5.85753e-14	6.75869e-14	0.139131	1	0
BAI3	577	broad.mit.edu	37	6	69653863	69653863	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:69653863C>A	ENST00000370598.1	+	6	1993	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	391	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCATAAGCCTTGTAATATT	0.408000													119	142					1.08021e-59	1.49702e-59	0.139131	1	0
RHBDL2	54933	broad.mit.edu	37	1	39352285	39352285	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:39352285A>T	ENST00000289248.2	-	8	1811	c.803T>A	c.(802-804)tTt>tAt	p.F268Y	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.F348Y|RHBDL2_ENST00000538156.1_Missense_Mutation_p.F335Y|RHBDL2_ENST00000372990.1_Missense_Mutation_p.F268Y			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	268					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGCTTTATCAAAGCAGCTAAA	0.408000													49	61					0	0	0.139131	0	0
RYR2	6262	broad.mit.edu	37	1	237753195	237753195	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:237753195A>T	ENST00000366574.2	+	30	4018	c.3701A>T	c.(3700-3702)gAg>gTg	p.E1234V	RYR2_ENST00000360064.6_Missense_Mutation_p.E1232V|RYR2_ENST00000542537.1_Missense_Mutation_p.E1218V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1234	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTACAAGAGGGCTATGAA	0.438000													58	105					0	0	0.139131	0	0
POLR1B	84172	broad.mit.edu	37	2	113309471	113309471	+	Silent	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:113309471T>C	ENST00000263331.5	+	6	1462	c.882T>C	c.(880-882)tgT>tgC	p.C294C	POLR1B_ENST00000409894.3_Silent_p.C294C|POLR1B_ENST00000541869.1_Silent_p.C332C|POLR1B_ENST00000417433.2_Silent_p.C238C|POLR1B_ENST00000537335.1_Silent_p.C83C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	294					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AAGAGGGTTGTTCGACACAAA	0.413000													107	112					0	0	0.139131	0	0
LYPD5	284348	broad.mit.edu	37	19	44302658	44302658	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:44302658A>T	ENST00000377950.3	-	4	546	c.466T>A	c.(466-468)Tgt>Agt	p.C156S	LYPD5_ENST00000594013.1_Missense_Mutation_p.C113S|LYPD5_ENST00000414615.2_Missense_Mutation_p.C113S	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	156	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				TCCTGGTGACACTGGACTCGT	0.652000													45	47					0	0	0.139131	0	0
PGM5	5239	broad.mit.edu	37	9	71098888	71098888	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:71098888G>A	ENST00000396396.1	+	9	1632	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	468					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GCTGTGGGGAGCCATGTCTAC	0.498000													153	158					0	0	0.139131	0	0
FRYL	285527	broad.mit.edu	37	4	48622683	48622683	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:48622683C>A	ENST00000537810.1	-	6	891	c.287G>T	c.(286-288)aGg>aTg	p.R96M	FRYL_ENST00000264319.7_De_novo_Start_InFrame|FRYL_ENST00000507711.1_Missense_Mutation_p.R96M|FRYL_ENST00000503238.1_Missense_Mutation_p.R96M|FRYL_ENST00000358350.4_Missense_Mutation_p.R96M			O94915	FRYL_HUMAN	FRY-like	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGACCGAGGCCTATATTCATA	0.428000													5	315					0.0215528	0.0231897	0.021553	1	0
ZNF148	7707	broad.mit.edu	37	3	125032482	125032482	+	Translation_Start_Site	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:125032482C>T	ENST00000360647.4	-	4	488	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF148_ENST00000485866.1_Start_Codon_SNP_p.M1I|ZNF148_ENST00000492394.1_Start_Codon_SNP_p.M1I|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Start_Codon_SNP_p.M1I	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	1					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CGTCAATGTTCATGCTTAAGT	0.353000													93	229					0	0	0.139131	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123130282	123130282	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:123130282G>A	ENST00000368440.4	+	8	1268	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.G233E	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	364					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AATCTAAAGGGAGAGTCCATC	0.403000													46	57					0	0	0.139131	0	0
PADI2	11240	broad.mit.edu	37	1	17395646	17395646	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:17395646A>T	ENST00000375486.4	-	16	1954	c.1891T>A	c.(1891-1893)Ttc>Atc	p.F631I	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.F515I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	631					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCGTCGATGAAGGTGCATTCG	0.597000													4	189					0	0	0.009096	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21750345	21750345	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:21750345G>A	ENST00000319481.3	-	24	2570	c.2364C>T	c.(2362-2364)gaC>gaT	p.D788D	OSBPL1A_ENST00000399443.3_Silent_p.D275D|OSBPL1A_ENST00000357041.4_Silent_p.D406D	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	788					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTGTAAGCGTCAAACGTGG	0.383000													5	288					0	0	0.014758	0	0
SETD1A	9739	broad.mit.edu	37	16	30977308	30977308	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr16:30977308C>T	ENST00000262519.8	+	8	2792	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGATTGCCGCCTCAGCTGGCC	0.637000													20	21					0	0	0.062417	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261205	30261205	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:30261205G>T	ENST00000378982.2	+	1	1149	c.953G>T	c.(952-954)cGg>cTg	p.R318L		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	318										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCTGGAGCCCGGCCCAGAGTT	0.532000													24	18					2.27525e-19	2.7239e-19	0.091800	1	0
ADGRG1	9289	broad.mit.edu	37	16	57697403	57697403	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr16:57697403A>G	ENST00000562631.1	+	14	2505	c.1973A>G	c.(1972-1974)cAg>cGg	p.Q658R	GPR56_ENST00000388812.4_Missense_Mutation_p.Q664R|GPR56_ENST00000388813.5_Missense_Mutation_p.Q658R|GPR56_ENST00000538815.1_Missense_Mutation_p.Q658R|GPR56_ENST00000567835.1_Missense_Mutation_p.Q664R|GPR56_ENST00000456916.1_Missense_Mutation_p.Q664R|GPR56_ENST00000379694.4_Missense_Mutation_p.Q494R|GPR56_ENST00000562558.1_Missense_Mutation_p.Q658R|GPR56_ENST00000540164.2_Missense_Mutation_p.Q658R|GPR56_ENST00000544297.1_Missense_Mutation_p.Q483R|GPR56_ENST00000568908.1_Missense_Mutation_p.Q658R|GPR56_ENST00000379696.3_Missense_Mutation_p.Q664R|GPR56_ENST00000568909.1_Missense_Mutation_p.Q664R			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	664					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATGCGGCTGCAGGCCCGGGGT	0.682000													3	21					0	0	0.009096	0	0
AP1B1	162	broad.mit.edu	37	22	29735760	29735760	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr22:29735760C>T	ENST00000357586.2	-	15	2188	c.2002G>A	c.(2002-2004)Ggg>Agg	p.G668R	AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000405198.1_Missense_Mutation_p.G668R|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000356015.2_Intron|AP1B1_ENST00000402502.1_Intron|AP1B1_ENST00000432560.2_Intron|AP1B1_ENST00000472057.1_Intron	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	668	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCTCATCCCCCATCTCCAAG	0.577000													6	1					0	0	0.029380	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529654	115529654	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:115529654G>A	ENST00000361048.1	+	7	874	c.547G>A	c.(547-549)Gac>Aac	p.D183N	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.D177N|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.D95N	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		TGGTCTCCAAGACAAGGTAAT	0.478000													70	75					0	0	0.139131	0	0
KIF7	374654	broad.mit.edu	37	15	90188567	90188567	+	Splice_Site	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:90188567C>A	ENST00000394412.3	-	9	2114	c.2038_splice	c.e9+1	p.A680_splice		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	680					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCAGCTTACCTCTGGACCCT	0.662000													31	24					1.99505e-19	2.39971e-19	0.050027	1	0
SOAT1	6646	broad.mit.edu	37	1	179314114	179314114	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:179314114C>G	ENST00000367619.3	+	11	1163	c.1020C>G	c.(1018-1020)atC>atG	p.I340M	SOAT1_ENST00000539888.1_Missense_Mutation_p.I275M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I76M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I282M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	340					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTACTACATCTTTGAAAGGC	0.408000													181	432					0	0	0.139131	0	0
C9orf43	257169	broad.mit.edu	37	9	116187352	116187352	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:116187352A>G	ENST00000288462.4	+	9	1307	c.861A>G	c.(859-861)acA>acG	p.T287T	C9orf43_ENST00000374165.1_Silent_p.T287T	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	287										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						ACCTGAAGACAGAAGGTAGAT	0.403000													37	40					0	0	0.104719	0	0
OR8B3	390271	broad.mit.edu	37	11	124266883	124266883	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:124266883C>A	ENST00000354597.3	-	1	381	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGATCATATGC	0.408000													9	45					1.5842e-08	1.7564e-08	0.105934	1	0
PRDM13	59336	broad.mit.edu	37	6	100056654	100056654	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:100056654G>T	ENST00000369214.1	+	2	473	c.212G>T	c.(211-213)gGg>gTg	p.G71V	PRDM13_ENST00000369215.4_Missense_Mutation_p.G61V	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	61	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GACGAGTCGGGGGGCTCCCCT	0.597000													4	8					2.0095e-06	2.19924e-06	0.029380	1	0
KALRN	8997	broad.mit.edu	37	3	124413264	124413264	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:124413264G>A	ENST00000360013.3	+	53	7618	c.7491G>A	c.(7489-7491)cgG>cgA	p.R2497R	KALRN_ENST00000428018.2_Silent_p.R768R|KALRN_ENST00000291478.4_Silent_p.R800R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R2497R(1)|p.R800R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTGGGCGGCCAAAGCCCA	0.532000													7	482					0	0	0.038147	0	0
EVC2	132884	broad.mit.edu	37	4	5576458	5576458	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:5576458A>C	ENST00000310917.2	-	19	3805	c.3074T>G	c.(3073-3075)tTg>tGg	p.L1025W	EVC2_ENST00000344408.5_Missense_Mutation_p.L1105W|EVC2_ENST00000344938.1_Missense_Mutation_p.L1105W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1105						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTTTTCCAACAAGTCTTCTAG	0.453000													47	50					0	0	0.139131	0	0
PRPH	5630	broad.mit.edu	37	12	49690770	49690770	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:49690770C>T	ENST00000257860.4	+	4	2300	c.801C>T	c.(799-801)gaC>gaT	p.D267D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	267	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGCTGAGGGACATCCGCGCGC	0.667000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	5					0	0	0.038147	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725741	12725741	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:12725741C>A	ENST00000380682.1	+	13	1947	c.1441C>A	c.(1441-1443)Cgg>Agg	p.R481R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	481	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGCTTGGTGCGGGTAGAACT	0.468000													82	90					3.89424e-36	5.14524e-36	0.139131	1	0
SLC22A9	114571	broad.mit.edu	37	11	63143161	63143161	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:63143161C>A	ENST00000279178.3	+	5	1124	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	292					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AACAATAAACCAGAGGAAGGC	0.483000													94	92					1.3009e-50	1.77396e-50	0.139131	1	0
ABCG4	64137	broad.mit.edu	37	11	119025058	119025058	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:119025058G>T	ENST00000307417.3	+	4	809	c.445G>T	c.(445-447)Gat>Tat	p.D149Y	ABCG4_ENST00000531739.1_Missense_Mutation_p.D149Y|ABCG4_ENST00000449422.2_Missense_Mutation_p.D149Y	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	149	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATCATGCAAGATGACATGCT	0.582000													36	49					1.90571e-15	2.26026e-15	0.069456	1	0
TET2	54790	broad.mit.edu	37	4	106155487	106155487	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:106155487G>C	ENST00000513237.1	+	3	1248	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	TET2_ENST00000394764.1_Missense_Mutation_p.E130Q|TET2_ENST00000305737.2_Missense_Mutation_p.E130Q|TET2_ENST00000545826.1_Missense_Mutation_p.E130Q|TET2_ENST00000413648.2_Missense_Mutation_p.E130Q|TET2_ENST00000540549.1_Missense_Mutation_p.E130Q|TET2_ENST00000380013.4_Missense_Mutation_p.E130Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	130					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGTAAGCCAAGAAAGAAATCC	0.408000			"""Mis N, F"""		MDS								77	71					0	0	0.139131	0	0
TRMT2B	79979	broad.mit.edu	37	X	100276997	100276997	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:100276997C>G	ENST00000338687.7	-	8	1481	c.676G>C	c.(676-678)Gga>Cga	p.G226R	TRMT2B_ENST00000372935.1_Missense_Mutation_p.G271R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G226R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G271R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G271R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G271R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	271							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGGCTGCTCCAGGACCTCTG	0.463000													31	46					0	0	0.054565	0	0
HTR1E	3354	broad.mit.edu	37	6	87725323	87725323	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:87725323G>C	ENST00000305344.4	+	2	974	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R	HTR1E_ENST00000369584.1_Missense_Mutation_p.G91R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	91					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.G91R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGGAAGCTTGGGTACTTCCT	0.562000													72	78					0	0	0.139131	0	0
MT-TL1	0	broad.mit.edu	37	MT	3238	3238	+	RNA	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrM:3238G>A	ENST00000386347.1	+	0	9																											TTTgttaagatggcagagccc	0.433000													6	0					0	0	0.029380	0	0
SSBP2	23635	broad.mit.edu	37	5	80762883	80762883	+	Splice_Site	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:80762883G>C	ENST00000515395.1	-	8	536	c.480_splice	c.e8-1	p.S161_splice	SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000320672.4_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Intron			P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	189	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCAAGGGTCAGACTACCACAA	0.443000													124	3					0	0	0.139131	0	0
HGF	3082	broad.mit.edu	37	7	81374365	81374365	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:81374365G>T	ENST00000222390.5	-	6	923	c.697C>A	c.(697-699)Cag>Aag	p.Q233K	HGF_ENST00000457544.2_Missense_Mutation_p.Q228K|HGF_ENST00000453411.1_Missense_Mutation_p.Q228K|HGF_ENST00000444829.2_Missense_Mutation_p.Q233K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	233	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCCCAGCGCTGACAAATCTTG	0.373000													47	71					4.25531e-23	5.21685e-23	0.139131	1	0
TFB2M	64216	broad.mit.edu	37	1	246707918	246707918	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:246707918A>G	ENST00000366514.4	-	7	1109	c.924T>C	c.(922-924)ttT>ttC	p.F308F		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	308					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGTTCTTGGTAAATAAATTTT	0.343000													24	47					0	0	0.076483	0	0
KDM3B	51780	broad.mit.edu	37	5	137708496	137708496	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:137708496G>A	ENST00000314358.5	+	2	526	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	109					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTTCTCCAGGGCATTCGAGTC	0.502000													3	36					0	0	0.115264	0	0
NR5A1	2516	broad.mit.edu	37	9	127262970	127262970	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:127262970C>T	ENST00000373588.4	-	4	465	c.269G>A	c.(268-270)gGt>gAt	p.G90D		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	90					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GTTCCGGCCACCCCTCATACG	0.617000													7	3					0	0	0.038147	0	0
GP2	2813	broad.mit.edu	37	16	20337710	20337710	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr16:20337710C>A	ENST00000302555.5	-	2	193	c.44G>T	c.(43-45)tGg>tTg	p.W15L	GP2_ENST00000381360.5_Missense_Mutation_p.W15L|GP2_ENST00000381362.4_Missense_Mutation_p.W15L|GP2_ENST00000341642.5_Missense_Mutation_p.W15L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	15						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAAGGCCAGCCACAGGAGGCC	0.527000													27	42					2.61193e-14	3.04129e-14	0.144211	1	0
WNT10A	80326	broad.mit.edu	37	2	219754906	219754906	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:219754906C>T	ENST00000258411.3	+	3	1210	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	193					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATGGGGTCCCGGAACACCC	0.667000													6	12					0	0	0.029380	0	0
SSPO	23145	broad.mit.edu	37	7	149502581	149502581	+	RNA	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:149502581C>G	ENST00000378016.2	+	0	8394							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCTGGCGCAGTCGTTCCC	0.677000													5	5					0	0	0.021553	0	0
LRP1B	53353	broad.mit.edu	37	2	141113972	141113972	+	Silent	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:141113972T>A	ENST00000389484.3	-	75	12440	c.11469A>T	c.(11467-11469)acA>acT	p.T3823T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3823	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAAACAGATGTTTTTATTT	0.333000										TSP Lung(27;0.18)			87	86					0	0	0.139131	0	0
OR13C8	138802	broad.mit.edu	37	9	107331555	107331555	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:107331555T>C	ENST00000335040.1	+	1	107	c.107T>C	c.(106-108)cTg>cCg	p.L36P		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGATGTACCTGATGATCCTG	0.448000													6	614					0	0	0.047766	0	0
PTPRT	11122	broad.mit.edu	37	20	40733347	40733347	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr20:40733347C>A	ENST00000373198.3	-	26	3703	c.3468G>T	c.(3466-3468)gtG>gtT	p.V1156V	PTPRT_ENST00000373184.1_Silent_p.V1144V|PTPRT_ENST00000373187.1_Silent_p.V1134V|PTPRT_ENST00000373190.1_Silent_p.V1133V|PTPRT_ENST00000373193.3_Silent_p.V1137V|PTPRT_ENST00000373201.1_Silent_p.V1124V|PTPRT_ENST00000356100.2_Silent_p.V1143V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1134					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTGCACAAACACATATTGCT	0.512000													29	29					3.73148e-12	4.22901e-12	0.125774	1	0
DKK2	27123	broad.mit.edu	37	4	107847035	107847035	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:107847035C>A	ENST00000285311.3	-	2	999	c.294G>T	c.(292-294)tcG>tcT	p.S98S	DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Silent_p.S52S	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	98	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.S98S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCATGCAGGCCGATGATCCTT	0.512000													116	114					1.39691e-52	1.91512e-52	0.139131	1	0
DMP1	1758	broad.mit.edu	37	4	88583611	88583611	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:88583611G>A	ENST00000339673.6	+	6	780	c.681G>A	c.(679-681)agG>agA	p.R227R	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.R211R	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	227					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGAGTGAAAGGGGAAACTCCA	0.517000													52	59					0	0	0.139131	0	0
CD163L1	283316	broad.mit.edu	37	12	7548949	7548949	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:7548949C>A	ENST00000313599.3	-	8	1849	c.1792G>T	c.(1792-1794)Gtg>Ttg	p.V598L	CD163L1_ENST00000416109.2_Missense_Mutation_p.V608L|CD163L1_ENST00000396630.1_Missense_Mutation_p.V598L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	598	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGAAAGTACACCTCCAGTCTT	0.552000													26	36					2.80507e-11	3.15107e-11	0.050027	1	0
RIF1	55183	broad.mit.edu	37	2	152300042	152300042	+	Splice_Site	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:152300042G>T	ENST00000243326.4	+	17	2288		c.e17-1		RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTTTGTTCAGGTTCTTTCTC	0.284000													155	190					1.53895e-85	2.16813e-85	0.139131	1	0
UGGT1	56886	broad.mit.edu	37	2	128932405	128932405	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:128932405G>C	ENST00000375990.3	+	31	3843	c.3440G>C	c.(3439-3441)cGc>cCc	p.R1147P	UGGT1_ENST00000259253.6_Missense_Mutation_p.R1171P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1171					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAAGGGACGCTCTGAAGAT	0.408000													74	78					0	0	0.139131	0	0
OGT	8473	broad.mit.edu	37	X	70793528	70793528	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:70793528A>G	ENST00000373719.3	+	22	3242	c.3025A>G	c.(3025-3027)Acc>Gcc	p.T1009A	OGT_ENST00000373701.3_Missense_Mutation_p.T999A	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1009					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCTGTTCAACACCAAACAATA	0.428000													23	17					0	0	0.076483	0	0
NCAPH	23397	broad.mit.edu	37	2	97007619	97007619	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:97007619T>C	ENST00000455200.1	+	2	521	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.S87P			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	87					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTTATTGGCCTCCCCCTCCAG	0.577000													4	55					0	0	0.014758	0	0
ADCY8	114	broad.mit.edu	37	8	131861961	131861961	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:131861961A>C	ENST00000286355.5	-	10	4391	c.2299T>G	c.(2299-2301)Ttg>Gtg	p.L767V	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	767					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGAGGGGCAAACATTTATAA	0.468000										HNSCC(32;0.087)			51	42					0	0	0.139131	0	0
MFSD8	256471	broad.mit.edu	37	4	128865085	128865085	+	Silent	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:128865085T>C	ENST00000296468.3	-	5	388	c.261A>G	c.(259-261)caA>caG	p.Q87Q	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Silent_p.Q42Q|MFSD8_ENST00000513559.1_Silent_p.Q42Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	87					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AAGCTACCATTTGGCCAAGAC	0.403000													17	257					0	0	0.043863	0	0
HTR4	3360	broad.mit.edu	37	5	147928401	147928401	+	Silent	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:147928401A>T	ENST00000360693.3	-	4	321	c.183T>A	c.(181-183)tcT>tcA	p.S61S	HTR4_ENST00000521735.1_Silent_p.S61S|HTR4_ENST00000354217.2_Silent_p.S61S|HTR4_ENST00000520514.1_Silent_p.S61S|HTR4_ENST00000362016.2_Silent_p.S61S|HTR4_ENST00000521530.1_Silent_p.S61S|HTR4_ENST00000377888.3_Silent_p.S61S|HTR4_ENST00000517929.1_Silent_p.S61S|HTR4_ENST00000314512.6_Silent_p.S61S	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	61					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAAAAGCAAGAGATACAATGA	0.453000													80	5					0	0	0.139131	0	0
TRPC6	7225	broad.mit.edu	37	11	101353775	101353775	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:101353775G>A	ENST00000344327.3	-	5	1839	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	TRPC6_ENST00000348423.4_Missense_Mutation_p.P356L|TRPC6_ENST00000532133.1_Missense_Mutation_p.P472L|TRPC6_ENST00000360497.4_Missense_Mutation_p.P417L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	472					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGTTTCATTAGGAAGGAGTTT	0.428000													54	66					0	0	0.139131	0	0
ZNF543	125919	broad.mit.edu	37	19	57839445	57839445	+	Silent	SNP	G	G	C	rs71972752		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:57839445G>C	ENST00000321545.4	+	4	960	c.615G>C	c.(613-615)ggG>ggC	p.G205G		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGAATGCGGGAAAGTGTTTA	0.413000													43	42					0	0	0.117977	0	0
ANKRD17	26057	broad.mit.edu	37	4	74013123	74013123	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:74013123C>T	ENST00000358602.4	-	9	1710	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E419K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E532K|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	532					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTGAGTTTCTTCTGTCTGT	0.368000													4	125					0	0	0.014758	0	0
TLN2	83660	broad.mit.edu	37	15	63031648	63031648	+	Silent	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:63031648G>T	ENST00000561311.1	+	30	4019	c.3789G>T	c.(3787-3789)cgG>cgT	p.R1263R	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.R1263R			Q9Y4G6	TLN2_HUMAN	talin 2	1263					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCCACCCGGGGCCAGAGTG	0.557000													39	52					2.68985e-26	3.36231e-26	0.139131	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498000													5	173					0	0	0.014758	0	0
WDR93	56964	broad.mit.edu	37	15	90276380	90276380	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:90276380A>T	ENST00000268130.7	+	13	1575	c.1474A>T	c.(1474-1476)Aca>Tca	p.T492S	WDR93_ENST00000560294.1_Missense_Mutation_p.T464S|WDR93_ENST00000444934.2_Missense_Mutation_p.T209S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	492					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGTGCTGTGCACAGACGCCTC	0.502000													64	81					0	0	0.139131	0	0
HLA-G	3135	broad.mit.edu	37	6	29797632	29797632	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:29797632T>A	ENST00000428701.1	+	6	1113	c.935T>A	c.(934-936)gTt>gAt	p.V312D	HLA-G_ENST00000376815.3_Missense_Mutation_p.V128D|HLA-G_ENST00000376828.2_Missense_Mutation_p.V317D|HLA-G_ENST00000360323.6_Missense_Mutation_p.V312D|HLA-G_ENST00000376818.3_Missense_Mutation_p.V220D	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	312					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ATGGGTATCGTTGCTGGCCTG	0.587000													19	30					0	0	0.055883	0	0
SV2A	9900	broad.mit.edu	37	1	149877500	149877500	+	Silent	SNP	G	G	A	rs138815521	byFrequency	TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:149877500G>A	ENST00000369146.3	-	12	2467	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G	SV2A_ENST00000369145.1_Silent_p.G659G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	659					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGCTGACCCCGCCAAAAAGGC	0.557000													7	476					0	0	0.029380	0	0
NEURL4	84461	broad.mit.edu	37	17	7219585	7219585	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:7219585G>A	ENST00000399464.2	-	29	4561	c.4546C>T	c.(4546-4548)Cgc>Tgc	p.R1516C	RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000570460.1_Missense_Mutation_p.R1492C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1514C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGCCAGGGCGCACACACACC	0.597000													3	19					0	0	0.115264	0	0
SYNE1	23345	broad.mit.edu	37	6	152652224	152652224	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:152652224C>T	ENST00000367255.5	-	78	14197	c.13596G>A	c.(13594-13596)gtG>gtA	p.V4532V	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.V4532V|SYNE1_ENST00000423061.1_Silent_p.V4461V|SYNE1_ENST00000448038.1_Silent_p.V4461V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4532					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCCCCAGCACTTCACTCT	0.463000										HNSCC(10;0.0054)			126	145					0	0	0.139131	0	0
PIBF1	10464	broad.mit.edu	37	13	73401179	73401179	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr13:73401179G>A	ENST00000326291.6	+	7	1176	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	280						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GGAAGTAATTGAGCTTAGGAG	0.338000													67	4					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179478980	179478980	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:179478980T>G	ENST00000589042.1	-	262	49368	c.49144A>C	c.(49144-49146)Aag>Cag	p.K16382Q	TTN_ENST00000342175.6_Missense_Mutation_p.K7509Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7442Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13814Q|TTN_ENST00000591111.1_Missense_Mutation_p.K14741Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7317Q|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14741	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTGATCTTAGATCCACCA	0.468000													39	48					0	0	0.086207	0	0
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Splice_Site	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:103730859C>A	ENST00000453744.2	-	4	603	c.88_splice	c.e4-1	p.M30_splice	UBE2D3_ENST00000350435.7_Splice_Site_p.M24_splice|UBE2D3_ENST00000502404.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000505207.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000338145.3_Splice_Site_p.M30_splice|UBE2D3_ENST00000394801.4_Splice_Site_p.M30_splice|UBE2D3_ENST00000394803.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000504211.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000507845.1_Splice_Site_p.M1_splice|UBE2D3_ENST00000321805.7_Splice_Site_p.M30_splice|UBE2D3_ENST00000343106.5_Splice_Site_p.M30_splice|UBE2D3_ENST00000357194.6_Splice_Site_p.M32_splice|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000349311.8_Splice_Site_p.M30_splice|UBE2D3_ENST00000394804.2_Splice_Site_p.M30_splice	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	30					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GCCAATGAAACACTAGAAAAA	0.284000													3	8					0.115264	0.122468	0.115264	1	0
ROBO1	6091	broad.mit.edu	37	3	78649341	78649341	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:78649341A>G	ENST00000436010.2	-	28	5743	c.4746T>C	c.(4744-4746)aaT>aaC	p.N1582N	ROBO1_ENST00000467549.1_Silent_p.N1521N|ROBO1_ENST00000464233.1_Silent_p.N1621N|ROBO1_ENST00000495273.1_Silent_p.N1576N|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1621					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCGACCTACATTTGCTTGTT	0.383000													102	7					0	0	0.139131	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591354	56591354	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:56591354A>G	ENST00000338222.5	+	1	1329	c.1048A>G	c.(1048-1050)Act>Gct	p.T350A		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	350						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CAGCAATGCTACTGGGAACAC	0.542000													4	8					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7579494	7579494	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:7579494T>A	ENST00000420246.2	-	4	325	c.193A>T	c.(193-195)Aga>Tga	p.R65*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R65*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R65*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R65*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R65*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R65*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGGCATTCTGGGAGCTTCA	0.617000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			527	15					0	0	0.139131	0	0
DNAH3	55567	broad.mit.edu	37	16	21136530	21136530	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr16:21136530A>G	ENST00000261383.3	-	9	1369	c.1370T>C	c.(1369-1371)cTt>cCt	p.L457P	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L457P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	457	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGGTCCTCAAGTGACTTAAT	0.453000													44	50					0	0	0.124865	0	0
CLDN14	23562	broad.mit.edu	37	21	37833396	37833396	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr21:37833396C>A	ENST00000399137.1	-	3	1464	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CLDN14_ENST00000399139.1_Missense_Mutation_p.A200S|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.A200S|CLDN14_ENST00000399135.1_Missense_Mutation_p.A200S|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.A200S	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	200					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GTCGTGGTGGCCCTGGGCGGG	0.657000													13	11					4.36969e-10	4.86581e-10	0.105934	1	0
SLC4A10	57282	broad.mit.edu	37	2	162804157	162804157	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:162804157T>A	ENST00000375514.5	+	17	2415	c.2128T>A	c.(2128-2130)Tct>Act	p.S710T	SLC4A10_ENST00000446997.1_Missense_Mutation_p.S729T|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S699T|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S729T|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S699T	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	729					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTATTTTGGTCTGTGATCCT	0.438000													15	164					0	0	0.132662	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091488	17091488	+	Silent	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:17091488T>C	ENST00000443236.1	-	14	1576	c.1545A>G	c.(1543-1545)gaA>gaG	p.E515E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	468						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATAGGCTTCTTCCCCAACCT	0.567000													13	19					0	0	0.105934	0	0
NRK	203447	broad.mit.edu	37	X	105181439	105181439	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:105181439T>A	ENST00000428173.2	+	22	3970	c.3667T>A	c.(3667-3669)Ttg>Atg	p.L1223M	NRK_ENST00000243300.9_Missense_Mutation_p.L1222M			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1222	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGGAGTCAATTTGCTGTTGGG	0.348000										HNSCC(51;0.14)			13	22					0	0	0.105934	0	0
OSR2	116039	broad.mit.edu	37	8	99962908	99962908	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:99962908C>T	ENST00000297565.4	+	3	1177	c.681C>T	c.(679-681)ccC>ccT	p.P227P	OSR2_ENST00000522510.1_Silent_p.P227P|OSR2_ENST00000523368.1_Silent_p.P227P|OSR2_ENST00000457907.2_Silent_p.P348P|OSR2_ENST00000435298.2_Silent_p.P227P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	227					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AAGAAAAACCCTTCAAATGTC	0.333000													4	8					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179417150	179417150	+	Silent	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:179417150G>T	ENST00000589042.1	-	335	90701	c.90477C>A	c.(90475-90477)ccC>ccA	p.P30159P	TTN_ENST00000342175.6_Silent_p.P21286P|TTN_ENST00000359218.5_Silent_p.P21219P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.P27591P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P28518P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P21094P|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28518	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATGGTTTGGGTTTTCCCT	0.398000													16	17					2.62699e-14	3.04492e-14	0.132662	1	0
C10orf71	118461	broad.mit.edu	37	10	50532047	50532047	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:50532047G>A	ENST00000374144.3	+	3	1745	c.1457G>A	c.(1456-1458)tGt>tAt	p.C486Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.C486Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	486										endometrium(1)	1						CCCAGTGAATGTCAGTCTCGA	0.557000													13	19					0	0	0.119110	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807960	50807960	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:50807960C>A	ENST00000263046.4	+	7	1225	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.H344Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	344					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCGGCAGCACACAGACCCGA	0.517000													75	71					1.13027e-35	1.4705e-35	0.139131	1	0
SVEP1	79987	broad.mit.edu	37	9	113259169	113259169	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:113259169T>A	ENST00000401783.2	-	8	2062	c.1726A>T	c.(1726-1728)Aag>Tag	p.K576*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.K576*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.K553*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.K553*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	576	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCAGAGTCTTAGCCTCTATG	0.413000													8	6					0	0	0.038147	0	0
TARS	6897	broad.mit.edu	37	5	33461819	33461819	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:33461819C>T	ENST00000265112.3	+	14	1910	c.1599C>T	c.(1597-1599)aaC>aaT	p.N533N	TARS_ENST00000541634.1_Silent_p.N429N|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Silent_p.N533N|TARS_ENST00000414361.2_Silent_p.N412N|TARS_ENST00000455217.2_Silent_p.N566N	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	533					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGGAGTTAAACTCTGGAGATG	0.353000													73	181					0	0	0.139131	0	0
ZNF275	10838	broad.mit.edu	37	X	152613207	152613207	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:152613207G>T	ENST00000421401.3	+	4	1241	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V	ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000440091.1_Missense_Mutation_p.G385V|ZNF275_ENST00000370249.2_Missense_Mutation_p.G302V	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	271						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGAGTGTGGCAAGGCCTTC	0.672000													9	14					1.76689e-08	1.95047e-08	0.058154	1	0
SPTBN4	57731	broad.mit.edu	37	19	41009825	41009825	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:41009825G>T	ENST00000352632.3	+	12	1537	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R484L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R484L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R484L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R484L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	484					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACGAGGAGCGGGTGCAGGGT	0.642000													9	8					6.31663e-08	6.94284e-08	0.132662	1	0
PLN	5350	broad.mit.edu	37	6	118880214	118880214	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:118880214C>A	ENST00000357525.5	+	2	322	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000368488.5_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	44					blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATGTCTCTTGCTGATCTGTAT	0.408000													62	124					1.1362e-29	1.45593e-29	0.139131	1	0
OR2D3	120775	broad.mit.edu	37	11	6942268	6942268	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:6942268G>A	ENST00000317834.3	+	1	64	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGTAAACAGGCAAAAATAT	0.403000													62	1					0	0	0.139131	0	0
EYA4	2070	broad.mit.edu	37	6	133827278	133827278	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:133827278T>A	ENST00000367895.5	+	14	1690	c.1226T>A	c.(1225-1227)aTg>aAg	p.M409K	EYA4_ENST00000452339.2_Missense_Mutation_p.M355K|EYA4_ENST00000430974.2_Missense_Mutation_p.M361K|RP3-323P13.2_ENST00000451017.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.M409K|EYA4_ENST00000531901.1_Missense_Mutation_p.M415K|EYA4_ENST00000355286.6_Missense_Mutation_p.M386K|EYA4_ENST00000355167.3_Missense_Mutation_p.M409K|EYA4_ENST00000525849.1_Missense_Mutation_p.M386K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	409					anatomical structure morphogenesis|chromatin modification|DNA repair|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)		GGACTCCGCATGGAAGAAATG	0.328000													49	61					0	0	0.139131	0	0
TEX13A	56157	broad.mit.edu	37	X	104463999	104463999	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:104463999G>T	ENST00000372578.3	-	3	990	c.879C>A	c.(877-879)ttC>ttA	p.F293L	TEX13A_ENST00000372575.1_Missense_Mutation_p.F293L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P293T	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCTGGACAGGAAGAGGTTCT	0.527000													37	42					7.04047e-22	8.59005e-22	0.080422	1	0
DIAPH2	1730	broad.mit.edu	37	X	96212914	96212914	+	Missense_Mutation	SNP	G	G	C	rs149470789		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:96212914G>C	ENST00000324765.8	+	16	2049	c.1702G>C	c.(1702-1704)Gcg>Ccg	p.A568P	DIAPH2_ENST00000373061.3_Missense_Mutation_p.A568P|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A564P|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A568P|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A568P			O60879	DIAP2_HUMAN	diaphanous-related formin 2	568	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCACCACCCGCGCCACCTCT	0.557000													6	21					0	0	0.058154	0	0
ATR	545	broad.mit.edu	37	3	142178077	142178077	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:142178077A>G	ENST00000350721.4	-	43	7462	c.7341T>C	c.(7339-7341)ccT>ccC	p.P2447P	ATR_ENST00000383101.3_Silent_p.P2383P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2447	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCATGATGTAGGATCAGGGA	0.333000								Other conserved DNA damage response genes					3	140					0	0	0.115264	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290864	141290864	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:141290864T>C	ENST00000247452.3	-	3	1257	c.910A>G	c.(910-912)Aga>Gga	p.R304G		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	304	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGGGCTCTCGGACCCCAC	0.473000										HNSCC(46;0.14)			10	408					0	0	0.080935	0	0
LRRC25	126364	broad.mit.edu	37	19	18507421	18507421	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:18507421C>T	ENST00000339007.3	-	1	1006	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	LRRC25_ENST00000595840.1_Missense_Mutation_p.C118Y	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	118						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CTCCAGGGCACAGTTGCAGTC	0.632000													14	6					0	0	0.105934	0	0
KCNB2	9312	broad.mit.edu	37	8	73849937	73849937	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:73849937G>T	ENST00000523207.1	+	3	2935	c.2347G>T	c.(2347-2349)Ggg>Tgg	p.G783W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	783					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACCTTCCAAAGGGCTGTCCCC	0.527000													55	67					9.57592e-29	1.20884e-28	0.139131	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139412	90139412	+	RNA	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:90139412A>G	ENST00000492446.1	+	0	210																											ATCAGCAGAAACCAGAGAAAG	0.522000													96	99					0	0	0.139131	0	0
PSMD2	5708	broad.mit.edu	37	3	184025155	184025155	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:184025155G>A	ENST00000310118.4	+	17	2603	c.2045G>A	c.(2044-2046)gGg>gAg	p.G682E	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.G552E|PSMD2_ENST00000435761.1_Missense_Mutation_p.G523E	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGAGATATGGGGAGCCTACA	0.463000													71	53					0	0	0.139131	0	0
ABCC2	1244	broad.mit.edu	37	10	101605389	101605389	+	Silent	SNP	G	G	C	rs142713507		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:101605389G>C	ENST00000370449.4	+	29	4109	c.3996G>C	c.(3994-3996)gtG>gtC	p.V1332V		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1332	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGATTGGTGTGGTGGGCAGGA	0.448000											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	29					0	0	0.083992	0	0
FBN3	84467	broad.mit.edu	37	19	8159411	8159411	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:8159411G>T	ENST00000600128.1	-	47	6238	c.5824C>A	c.(5824-5826)Ccc>Acc	p.P1942T	FBN3_ENST00000270509.2_Missense_Mutation_p.P1942T|FBN3_ENST00000601739.1_Missense_Mutation_p.P1942T			Q75N90	FBN3_HUMAN	fibrillin 3	1942	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAAGTGCCGGGTAGGCAGGTT	0.597000													17	23					1.40151e-16	1.67002e-16	0.055883	1	0
MACF1	23499	broad.mit.edu	37	1	39750085	39750085	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:39750085A>G	ENST00000564288.1	+	11	1893	c.1116A>G	c.(1114-1116)ttA>ttG	p.L372L	MACF1_ENST00000545844.1_Silent_p.L377L|MACF1_ENST00000567887.1_Silent_p.L409L|MACF1_ENST00000372915.3_Silent_p.L377L|MACF1_ENST00000317713.7_Silent_p.L377L|MACF1_ENST00000539005.1_Silent_p.L377L|MACF1_ENST00000361689.2_Silent_p.L377L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	377					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAGGAATTATATAAATTAC	0.333000													52	50					0	0	0.139131	0	0
MRPL13	28998	broad.mit.edu	37	8	121437552	121437552	+	Silent	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:121437552T>A	ENST00000306185.3	-	4	591	c.300A>T	c.(298-300)ccA>ccT	p.P100P		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	100					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTACTGCCACTGGATCCCTCA	0.373000													62	69					0	0	0.139131	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709983	70709983	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:70709983A>G	ENST00000226444.3	-	7	780	c.668T>C	c.(667-669)aTa>aCa	p.I223T		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	223					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AGTATGATGTATAATCCTGTC	0.393000													77	216					0	0	0.139131	0	0
ATXN2	6311	broad.mit.edu	37	12	111907921	111907921	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:111907921C>T	ENST00000377617.3	-	20	3468	c.3307G>A	c.(3307-3309)Gcg>Acg	p.A1103T	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.A838T|ATXN2_ENST00000535949.1_Missense_Mutation_p.A814T|ATXN2_ENST00000389153.4_Missense_Mutation_p.A840T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1103					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCATACATCGCATGCGTCTGC	0.438000													71	78					0	0	0.139131	0	0
GIT2	9815	broad.mit.edu	37	12	110370790	110370790	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:110370790T>A	ENST00000360185.4	-	19	2287	c.2123A>T	c.(2122-2124)aAc>aTc	p.N708I	GIT2_ENST00000338373.5_Missense_Mutation_p.N660I|GIT2_ENST00000551209.1_Missense_Mutation_p.N707I|GIT2_ENST00000343646.5_Missense_Mutation_p.N648I|GIT2_ENST00000553118.1_Missense_Mutation_p.N630I|GIT2_ENST00000457474.2_Missense_Mutation_p.N680I|GIT2_ENST00000361006.5_Missense_Mutation_p.N728I|GIT2_ENST00000356259.4_Missense_Mutation_p.N645I|GIT2_ENST00000354574.4_Missense_Mutation_p.N680I|GIT2_ENST00000355312.3_Missense_Mutation_p.N758I			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	758					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGTCAGTTGTTGTTCTCTTT	0.493000													29	46					0	0	0.059317	0	0
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388000													6	539					0	0	0.021553	0	0
PTPRO	5800	broad.mit.edu	37	12	15731818	15731818	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:15731818A>T	ENST00000281171.4	+	20	3191	c.2861A>T	c.(2860-2862)cAc>cTc	p.H954L	PTPRO_ENST00000348962.2_Missense_Mutation_p.H926L|PTPRO_ENST00000542557.1_Missense_Mutation_p.H115L|PTPRO_ENST00000544244.1_Missense_Mutation_p.H115L|PTPRO_ENST00000442921.2_Missense_Mutation_p.H143L|PTPRO_ENST00000445537.2_Missense_Mutation_p.H143L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	954	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GATATCCCACACTTTGCTGCA	0.398000													34	48					0	0	0.069456	0	0
TTLL13	440307	broad.mit.edu	37	15	90799470	90799470	+	Silent	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:90799470C>A	ENST00000438251.1	+	6	936	c.646C>A	c.(646-648)Cga>Aga	p.R216R	TTLL13_ENST00000339615.5_Silent_p.R216R|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CTTCATTACCCGAAATCCCCG	0.542000													29	31					7.26314e-15	8.57454e-15	0.125774	1	0
ZNF324B	388569	broad.mit.edu	37	19	58967159	58967159	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:58967159G>T	ENST00000391696.1	+	3	1750	c.818G>T	c.(817-819)cGg>cTg	p.R273L	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R283L|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R283L			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCGGGGAGCGGCCCTACGAG	0.652000													14	17					8.00594e-06	8.72442e-06	0.043863	1	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													3	21					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179616022	179616022	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:179616022A>T	ENST00000360870.5	-	46	11327	c.11105T>A	c.(11104-11106)tTg>tAg	p.L3702*	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9548	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACGTTGCAACTTCACTTT	0.338000													79	95					0	0	0.139131	0	0
FAM124B	79843	broad.mit.edu	37	2	225266227	225266227	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:225266227C>G	ENST00000389874.3	-	1	484	c.259G>C	c.(259-261)Gac>Cac	p.D87H	FAM124B_ENST00000409685.3_Missense_Mutation_p.D87H|FAM124B_ENST00000243806.2_Missense_Mutation_p.D87H	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	87							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TGGAGAGAGTCCAGGACGCGA	0.567000													11	26					0	0	0.080935	0	0
GAD2	2572	broad.mit.edu	37	10	26589865	26589865	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:26589865T>C	ENST00000376261.3	+	16	2236	c.1733T>C	c.(1732-1734)aTa>aCa	p.I578T	GAD2_ENST00000259271.3_Missense_Mutation_p.I578T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	578					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATTGAAGAAATAGAACGCCTT	0.428000													96	147					0	0	0.139131	0	0
EYA1	2138	broad.mit.edu	37	8	72127853	72127853	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:72127853A>G	ENST00000340726.3	-	15	2110	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	EYA1_ENST00000388740.3_Missense_Mutation_p.S458P|EYA1_ENST00000388743.2_Missense_Mutation_p.S490P|EYA1_ENST00000388741.2_Missense_Mutation_p.S457P|EYA1_ENST00000419131.1_Missense_Mutation_p.S456P|EYA1_ENST00000303824.7_Missense_Mutation_p.S485P|EYA1_ENST00000388742.4_Missense_Mutation_p.S491P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	491					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTCACCGGGAGTGAATGAGC	0.507000													3	138					0	0	0.009096	0	0
MKRN3	7681	broad.mit.edu	37	15	23811246	23811246	+	Missense_Mutation	SNP	A	A	T	rs143897856	byFrequency	TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:23811246A>T	ENST00000314520.3	+	1	793	c.317A>T	c.(316-318)cAt>cTt	p.H106L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	106						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TATTATATACATGGGCAGTGC	0.602000													29	25					0	0	0.050027	0	0
CYLC1	1538	broad.mit.edu	37	X	83128938	83128938	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:83128938G>T	ENST00000329312.4	+	4	1259	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	408					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTCTCTACTGATTCTGAATC	0.318000													32	43					1.99505e-19	2.39971e-19	0.050027	1	0
EPHA5	2044	broad.mit.edu	37	4	66218787	66218787	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:66218787C>A	ENST00000273854.3	-	13	2871	c.2271G>T	c.(2269-2271)gaG>gaT	p.E757D	EPHA5_ENST00000354839.4_Missense_Mutation_p.E735D|EPHA5_ENST00000432638.2_Missense_Mutation_p.E594D|EPHA5_ENST00000511294.1_Missense_Mutation_p.E758D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	757	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGAGCCATTCTCCATATACT	0.358000										TSP Lung(17;0.13)			30	57					2.09667e-21	2.54595e-21	0.064281	1	0
C15orf26	161502	broad.mit.edu	37	15	81429058	81429058	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr15:81429058C>G	ENST00000286732.4	+	3	444	c.361C>G	c.(361-363)Cca>Gca	p.P121A		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	121										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						AGCCAAGACCCCAATTGGCAG	0.408000													31	33					0	0	0.104719	0	0
OR4P4	81300	broad.mit.edu	37	11	55406549	55406549	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:55406549G>A	ENST00000314612.2	+	1	716	c.716G>A	c.(715-717)aGt>aAt	p.S239N		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCACTTGTAGTTCTCATGTA	0.383000													103	119					0	0	0.139131	0	0
CRIM1	51232	broad.mit.edu	37	2	36771536	36771536	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:36771536C>A	ENST00000280527.2	+	15	3008	c.2641C>A	c.(2641-2643)Cca>Aca	p.P881T	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	881					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGTCCCAGAACCAACCAATAT	0.443000													83	116					1.01459e-35	1.32678e-35	0.139131	1	0
SLC6A5	9152	broad.mit.edu	37	11	20628684	20628684	+	Splice_Site	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:20628684G>C	ENST00000525748.1	+	4	1084	c.811_splice	c.e4+1	p.G271_splice		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	271					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCTCTACAAGGTGAGTCCAG	0.597000													7	1					0	0	0.038147	0	0
CCM2	83605	broad.mit.edu	37	7	45077868	45077868	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:45077868C>T	ENST00000475551.1	+	2	789	c.29C>T	c.(28-30)cCa>cTa	p.P10L	CCM2_ENST00000258781.6_Missense_Mutation_p.P16L|CCM2_ENST00000544363.1_Missense_Mutation_p.P16L|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000474617.1_Missense_Mutation_p.P10L|CCM2_ENST00000381112.3_Missense_Mutation_p.P37L|CCM2_ENST00000461377.1_3'UTR			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	16					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATTGTCTCGCCATTTAAACGA	0.433000													47	69					0	0	0.139131	0	0
SRD5A3	79644	broad.mit.edu	37	4	56212692	56212692	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:56212692C>T	ENST00000264228.4	+	1	417	c.189C>T	c.(187-189)ccC>ccT	p.P63P		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	63					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CGTCGCGCCCCGCCGCCTGCC	0.711000													2	1					0	0	0.115264	0	0
TMEM44	93109	broad.mit.edu	37	3	194346652	194346652	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:194346652C>A	ENST00000392432.2	-	3	537	c.332G>T	c.(331-333)tGt>tTt	p.C111F	TMEM44_ENST00000273580.7_Missense_Mutation_p.C111F|TMEM44_ENST00000330115.3_Missense_Mutation_p.C8F|TMEM44_ENST00000473092.1_Missense_Mutation_p.C111F|TMEM44_ENST00000381975.3_Missense_Mutation_p.C111F|TMEM44_ENST00000347147.4_Missense_Mutation_p.C111F	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	111						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TTTGGATCCACAGACTGGGAA	0.448000													3	66					0.115264	0.122468	0.115264	1	0
ZNF513	130557	broad.mit.edu	37	2	27600739	27600739	+	Silent	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:27600739A>G	ENST00000323703.6	-	4	1497	c.1299T>C	c.(1297-1299)cgT>cgC	p.R433R	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.R371R	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	433					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGACCATGACGCTTGAGGT	0.547000													3	113					0	0	0.009096	0	0
OR2T33	391195	broad.mit.edu	37	1	248436163	248436163	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:248436163C>A	ENST00000318021.2	-	1	975	c.954G>T	c.(952-954)agG>agT	p.R318S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R318S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCATCTTGACCTGTGGGCCT	0.403000													167	153					1.92156e-89	2.72222e-89	0.139131	1	0
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:119245037G>A	ENST00000316316.6	-	3	846	c.560C>T	c.(559-561)tCa>tTa	p.S187L	MCM9_ENST00000316068.3_Missense_Mutation_p.S187L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.S187*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AGACAAGCCTGAGAGGCAAGT	0.418000													29	27					0	0	0.045705	0	0
COL5A1	1289	broad.mit.edu	37	9	137708877	137708877	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:137708877C>T	ENST00000371817.3	+	53	4542	c.4128C>T	c.(4126-4128)tcC>tcT	p.S1376S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1376	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCAGGGATCCCCCGGCCCTA	0.512000													16	16					0	0	0.033300	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960045	117960045	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:117960045G>A	ENST00000310164.2	+	4	1345	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGTGATCCTGGTGGAGTCTCA	0.567000													50	68					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9007836	9007836	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:9007836G>T	ENST00000397910.4	-	42	39591	c.39388C>A	c.(39388-39390)Cat>Aat	p.H13130N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13132					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTCCGATGGGTGAAACCT	0.522000													72	112					6.09464e-36	8.01099e-36	0.139131	1	0
BRDT	676	broad.mit.edu	37	1	92459700	92459700	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:92459700C>A	ENST00000370389.2	+	15	2881	c.1957C>A	c.(1957-1959)Cct>Act	p.P653T	BRDT_ENST00000394530.3_Missense_Mutation_p.P680T|BRDT_ENST00000399546.2_Missense_Mutation_p.P726T|BRDT_ENST00000402388.1_Missense_Mutation_p.P726T|BRDT_ENST00000362005.3_Missense_Mutation_p.P726T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	726	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCAGACCACACCTTCACATGT	0.338000													93	121					1.44786e-46	1.94318e-46	0.139131	1	0
DDR2	4921	broad.mit.edu	37	1	162741929	162741929	+	Silent	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:162741929G>T	ENST00000367922.2	+	14	2058	c.1620G>T	c.(1618-1620)gtG>gtT	p.V540V	DDR2_ENST00000367921.3_Silent_p.V540V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	540					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CATACTCAGTGCCTGCCGTCA	0.557000													32	94					6.04917e-29	7.67433e-29	0.092188	1	0
GORASP2	26003	broad.mit.edu	37	2	171822507	171822507	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:171822507C>T	ENST00000234160.4	+	10	2041	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	GORASP2_ENST00000452526.2_Missense_Mutation_p.S421L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	409						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCTGCCTCCTCACTCACTGTG	0.637000													7	15					0	0	0.058154	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869823	151869823	+	Silent	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:151869823C>T	ENST00000329342.5	+	3	738	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	171	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGGACCCCATCGGCCACG	0.532000													43	52					0	0	0.124865	0	0
EIF4EBP3	8637	broad.mit.edu	37	5	139928512	139928512	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr5:139928512G>A	ENST00000310331.2	+	2	197	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P2567P|ANKHD1_ENST00000297183.6_Silent_p.P2567P	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	42					negative regulation of translational initiation	eukaryotic translation initiation factor 4F complex	eukaryotic initiation factor 4E binding|translation repressor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTACGACCGAAAGTTCCTG	0.597000													3	52					0	0	0.009096	0	0
PCDH9	5101	broad.mit.edu	37	13	67802394	67802394	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr13:67802394G>A	ENST00000544246.1	-	2	870	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACAAGGCTGGCGCTGGTCCC	0.458000													18	0					0	0	0.074837	0	0
CTDP1	9150	broad.mit.edu	37	18	77473137	77473137	+	Splice_Site	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:77473137A>T	ENST00000299543.7	+	7	1176	c.1030_splice	c.e7+1	p.K343_splice	CTDP1_ENST00000075430.7_Splice_Site_p.K343_splice	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	343	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGAGAAAGAAAGGTGGGTAAC	0.418000													17	16					0	0	0.038395	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													6	22					0	0	0.038147	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428836	120428836	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:120428836G>A	ENST00000222747.3	-	8	1335	c.728C>T	c.(727-729)aCt>aTt	p.T243I	TSPAN12_ENST00000415871.1_Missense_Mutation_p.T243I	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	243					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CCAGAGCAGAGTAATGGTGAG	0.473000													147	150					0	0	0.139131	0	0
PCDH8	5100	broad.mit.edu	37	13	53418775	53418775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr13:53418775G>A	ENST00000377942.3	-	3	3336	c.3133C>T	c.(3133-3135)Cag>Tag	p.Q1045*	PCDH8_ENST00000338862.4_Nonsense_Mutation_p.Q948*	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1045					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAATCTCCTGCAGGTCTGGG	0.562000													23	0					0	0	0.076483	0	0
GRB7	2886	broad.mit.edu	37	17	37900365	37900365	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:37900365C>G	ENST00000309156.4	+	7	963	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	GRB7_ENST00000445327.2_Missense_Mutation_p.L259V|GRB7_ENST00000309185.3_Missense_Mutation_p.L236V|GRB7_ENST00000394209.2_Missense_Mutation_p.L236V|GRB7_ENST00000394211.3_Missense_Mutation_p.L236V|GRB7_ENST00000394204.1_Missense_Mutation_p.L236V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	236	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGGGCTTTCTGCAGCTGCG	0.552000													62	1					0	0	0.139131	0	0
JMJD1C	221037	broad.mit.edu	37	10	64952803	64952803	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:64952803C>T	ENST00000399262.2	-	16	6189	c.5971G>A	c.(5971-5973)Gag>Aag	p.E1991K	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1809K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1754K|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1991					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACATCACTCTCTGGGCTGCTG	0.448000													98	95					0	0	0.139131	0	0
DLG2	1740	broad.mit.edu	37	11	83691638	83691638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:83691638C>A	ENST00000398309.2	-	7	1122	c.652G>T	c.(652-654)Gga>Tga	p.G218*	DLG2_ENST00000398301.2_Nonsense_Mutation_p.G257*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.G218*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.G257*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.G323*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.G167*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.G185*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.G218*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.G157*|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Nonsense_Mutation_p.G323*|DLG2_ENST00000537455.1_5'UTR	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	218	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGTTGTCTCCAGGAATGTGT	0.398000													118	120					2.52425e-37	3.35252e-37	0.139131	1	0
DOCK11	139818	broad.mit.edu	37	X	117722182	117722182	+	Silent	SNP	T	T	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chrX:117722182T>A	ENST00000276204.6	+	17	1952	c.1878T>A	c.(1876-1878)gtT>gtA	p.V626V	DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.V626V			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	626					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGAGTTTGTTCCAGAAATGA	0.323000													120	135					0	0	0.139131	0	0
KIAA1109	84162	broad.mit.edu	37	4	123200955	123200955	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:123200955A>G	ENST00000264501.4	+	51	8990	c.8617A>G	c.(8617-8619)Aag>Gag	p.K2873E	KIAA1109_ENST00000455637.1_Missense_Mutation_p.K2873E|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K2873E			Q2LD37	K1109_HUMAN	KIAA1109	2873					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTATTGCCAAGTCCCAAGC	0.398000													50	48					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179444862	179444862	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr2:179444862G>C	ENST00000589042.1	-	318	67376	c.67152C>G	c.(67150-67152)agC>agG	p.S22384R	RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S13511R|TTN_ENST00000359218.5_Missense_Mutation_p.S13444R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19816R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S20743R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13319R|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20743							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATGATGGGGCTTCCGCCAT	0.448000													56	55					0	0	0.139131	0	0
DCC	1630	broad.mit.edu	37	18	50734081	50734081	+	Silent	SNP	G	G	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:50734081G>T	ENST00000442544.2	+	11	2371	c.1755G>T	c.(1753-1755)ctG>ctT	p.L585L	DCC_ENST00000412726.1_Silent_p.L433L|DCC_ENST00000581580.1_Silent_p.L240L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	585	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTATAAACTGGAAGGCCTGA	0.373000													121	134					1.14919e-56	1.58402e-56	0.139131	1	0
ZNF644	84146	broad.mit.edu	37	1	91405243	91405243	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:91405243C>G	ENST00000370440.1	-	3	1885	c.1668G>C	c.(1666-1668)atG>atC	p.M556I	ZNF644_ENST00000337393.5_Missense_Mutation_p.M556I|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	556			M -> V (in dbSNP:rs17131242).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGAAGTGACCATAGGGCATT	0.408000													66	75					0	0	0.139131	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902294	54902294	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:54902294A>G	ENST00000293373.6	+	5	564	c.485A>G	c.(484-486)cAt>cGt	p.H162R	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H112R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	162					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTGTGCCCATGAGATGCTG	0.443000													178	181					0	0	0.139131	0	0
ZNF85	7639	broad.mit.edu	37	19	21132503	21132503	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:21132503G>A	ENST00000601023.1	+	2	1652	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ZNF85_ENST00000328178.8_Missense_Mutation_p.E395K|ZNF85_ENST00000345030.6_Missense_Mutation_p.E362K			Q03923	ZNF85_HUMAN	zinc finger protein 85	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCATACTGGAGAGAAACCTTA	0.333000													13	13					0	0	0.093190	0	0
RIMS3	9783	broad.mit.edu	37	1	41101697	41101697	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:41101697G>A	ENST00000372684.3	-	4	719	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	RIMS3_ENST00000372683.1_Missense_Mutation_p.R84C	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	84					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGCTCCGGCGGATGTTGCTG	0.622000													35	38					0	0	0.069456	0	0
CCDC60	160777	broad.mit.edu	37	12	119909874	119909874	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr12:119909874G>A	ENST00000327554.2	+	3	711	c.246G>A	c.(244-246)aaG>aaA	p.K82K	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	82										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAAAAGAAGCAACAACAAC	0.433000													114	85					0	0	0.139131	0	0
ALPK2	115701	broad.mit.edu	37	18	56203480	56203480	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:56203480G>A	ENST00000361673.3	-	5	4152	c.3939C>T	c.(3937-3939)agC>agT	p.S1313S	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1313							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGCCTTTATGGCTTTCTCTGC	0.537000													47	98					0	0	0.139131	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107069328	107069328	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:107069328G>A	ENST00000539449.1	-	3	943	c.467C>T	c.(466-468)tCa>tTa	p.S156L	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.S156L			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	156						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AACAAACTCTGAAAGAGTGCC	0.403000													35	41					0	0	0.124865	0	0
PTPRC	5788	broad.mit.edu	37	1	198717268	198717268	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:198717268C>A	ENST00000367376.2	+	27	3043	c.2872C>A	c.(2872-2874)Cag>Aag	p.Q958K	PTPRC_ENST00000442510.2_Missense_Mutation_p.Q960K|PTPRC_ENST00000594404.1_Missense_Mutation_p.Q797K|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q910K|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q799K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	958	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGGAGGACACAGCACATTGG	0.284000													56	45					7.71302e-15	9.06368e-15	0.139131	1	0
GYPE	2996	broad.mit.edu	37	4	144797951	144797951	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:144797951A>G	ENST00000358615.4	-	3	245	c.194T>C	c.(193-195)gTt>gCt	p.V65A	GYPE_ENST00000437468.2_Missense_Mutation_p.V65A	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	65						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					TCCAACAACAACAAGCATCAC	0.363000													24	2					0	0	0.083992	0	0
FBXO15	201456	broad.mit.edu	37	18	71740732	71740732	+	Silent	SNP	G	G	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:71740732G>A	ENST00000269500.5	-	10	1604	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.I499I	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	423										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATTTTTGCGATACTAAGAT	0.408000													615	616					0	0	0.139131	0	0
EDN1	1906	broad.mit.edu	37	6	12296272	12296272	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:12296272A>T	ENST00000379375.5	+	5	878	c.611A>T	c.(610-612)tAt>tTt	p.Y204F		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	204					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAGAGCGTTATGTGACCCAC	0.527000													100	168					0	0	0.139131	0	0
FMO1	2326	broad.mit.edu	37	1	171254526	171254526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:171254526delG	ENST00000354841.4	+	8	1573	c.1442delG	c.(1441-1443)tgfs	p.W481fs	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Del_p.W481fs|FMO1_ENST00000402921.2_Frame_Shift_Del_p.W418fs			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	481					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGGAAAATGGGAAGGAGCC	0.498													55	135	---	---	---	---					
FASLG	356	broad.mit.edu	37	1	172628388	172628388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:172628388delA	ENST00000367721.2	+	1	231	c.47delA	c.(46-48)gcfs	p.D16fs	FASLG_ENST00000340030.3_Frame_Shift_Del_p.D16fs	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	16	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TACTGGGTGGACAGCAGTGCC	0.597													19	103	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204970335	204970336	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:204970335_204970336delCC	ENST00000367172.4	+	28	3706_3707	c.3378_3379delCC	c.(3376-3381)ctccfs	p.LP1126fs	NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367171.4_Frame_Shift_Del_p.LP1111fs|NFASC_ENST00000367170.4_Frame_Shift_Del_p.LP1047fs|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000401399.1_Frame_Shift_Del_p.LP1019fs|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Frame_Shift_Del_p.LP1019fs|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1126	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCACGGTGCTCCCCAACAGTAA	0.540													2	4	---	---	---	---					
MFSD4	148808	broad.mit.edu	37	1	205568346	205568346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr1:205568346delT	ENST00000367147.4	+	9	1549	c.1456delT	c.(1456-1458)ttfs	p.F487fs	MFSD4_ENST00000536357.1_Frame_Shift_Del_p.F400fs|MFSD4_ENST00000478555.1_3'UTR|MFSD4_ENST00000539267.1_3'UTR	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	487					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTTGCTCCTGTTTTTCCACAG	0.517													167	101	---	---	---	---					
SIDT1	54847	broad.mit.edu	37	3	113326986	113326991	+	In_Frame_Del	DEL	CTTCCT	CTTCCT	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:113326986_113326991delCTTCCT	ENST00000264852.4	+	16	2250_2255	c.1524_1529delCTTCCT	c.(1522-1530)ggc>gg	p.GFL508del	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_In_Frame_Del_p.GFL508del	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	508						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGCTTCTGGGCTTCCTCTTCCTGCTG	0.544													88	341	---	---	---	---					
SIDT1	54847	broad.mit.edu	37	3	113327317	113327318	+	In_Frame_Ins	INS	-	-	TGA			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr3:113327317_113327318insTGA	ENST00000264852.4	+	17	2380_2381	c.1654_1655insTGA	c.(1654-1656)gat>TGAgat	p.551_552ins*	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_In_Frame_Ins_p.551_552ins*	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	551						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGGCATTGCATTGATGATGGAA	0.411													114	363	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													2	4	---	---	---	---					
DSE	29940	broad.mit.edu	37	6	116756950	116756950	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr6:116756950delT	ENST00000331677.3	+	7	1763	c.1319delT	c.(1318-1320)acfs	p.I440fs	DSE_ENST00000359564.2_Frame_Shift_Del_p.I440fs|DSE_ENST00000452085.3_Frame_Shift_Del_p.I440fs|DSE_ENST00000537543.1_Frame_Shift_Del_p.I459fs			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	440					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGATTGGATCAAAGGATGG	0.403													33	29	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656	by1000genomes	TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr7:100371476_100371477insG	ENST00000542585.1	+	0	5914				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													4	2	---	---	---	---					
DOCK5	80005	broad.mit.edu	37	8	25265569	25265571	+	In_Frame_Del	DEL	GAG	GAG	-	rs150764947		TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr8:25265569_25265571delGAG	ENST00000276440.7	+	49	5208_5210	c.5164_5166delGAG	c.(5164-5166)del	p.E1723del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1723						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTCCCTTAGAGAGGAGAACAGCG	0.507													8	14	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40774257	40774257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:40774257delG	ENST00000602553.1	-	5	1312	c.1018delC	c.(1018-1020)atfs	p.H340fs	ZNF658_ENST00000441795.1_Frame_Shift_Del_p.H338fs|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.H340fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTACTATATGGGCTGAGCTC	0.393													52	78	---	---	---	---					
PGM5P2	595135	broad.mit.edu	37	9	69128418	69128419	+	RNA	INS	-	-	A			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:69128418_69128419insA	ENST00000591037.1	-	0	430					NR_002836.2																						aggaaggaaggaaggaaggaag	0.450													5	3	---	---	---	---					
RAB14	51552	broad.mit.edu	37	9	123945668	123945671	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr9:123945668_123945671delAATT	ENST00000373840.4	-	6	594_597	c.357_360delAATT	c.(355-360)atfs	p.II119fs		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	119					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCCTATGAGAATTATTACCTAAT	0.314													110	172	---	---	---	---					
AKR1C7P	648947	broad.mit.edu	37	10	5317195	5317195	+	RNA	DEL	A	A	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr10:5317195delA	ENST00000432689.2	-	0	571																											ACTCAAAGTCAAAAACCTGAA	0.453													2	4	---	---	---	---					
IRF7	3665	broad.mit.edu	37	11	613353	613354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:613353_613354insC	ENST00000397566.1	-	7	1537_1538	c.1128_1129insG	c.(1126-1131)ggcacafs	p.T377fs	IRF7_ENST00000397574.2_Frame_Shift_Ins_p.T364fs|IRF7_ENST00000397562.3_Frame_Shift_Ins_p.T71fs|IRF7_ENST00000330243.5_Frame_Shift_Ins_p.T377fs|IRF7_ENST00000525445.1_Frame_Shift_Ins_p.T258fs|IRF7_ENST00000348655.6_Frame_Shift_Ins_p.T335fs|IRF7_ENST00000397570.1_Frame_Shift_Ins_p.T335fs	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	364					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGCTGTGGCCCCCGAAGCT	0.713													2	4	---	---	---	---					
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr11:74899193delC	ENST00000289575.5	+	8	1380	c.985delC	c.(985-987)ccfs	p.P329fs	SLCO2B1_ENST00000532236.1_Frame_Shift_Del_p.P213fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Del_p.P74fs|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Frame_Shift_Del_p.P102fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.P307fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Del_p.P102fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Del_p.P185fs	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557													23	29	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919228	48919229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr13:48919228_48919229insT	ENST00000267163.4	+	4	531_532	c.393_394insT	c.(391-396)ttttaafs	p.*132fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	132					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCATAAATTCTTTAACTTACT	0.272		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			14	1	---	---	---	---					
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)tggfs	p.W1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634													7	138	---	---	---	---					
SEL1L	6400	broad.mit.edu	37	14	81993163	81993164	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr14:81993163_81993164insC	ENST00000336735.4	-	3	369_370	c.253_254insG	c.(253-255)aagfs	p.K85fs	SEL1L_ENST00000555824.1_Frame_Shift_Ins_p.K85fs	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGTGACACTTTCCCCCTCTTGG	0.416													9	1321	---	---	---	---					
RPL21P122	100271447	broad.mit.edu	37	17	11914551	11914551	+	RNA	DEL	T	T	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr17:11914551delT	ENST00000578024.1	-	0	67																											TTTTGGTGAATTACTGGAAGA	0.353													2	4	---	---	---	---					
RP11-78F17.1	0	broad.mit.edu	37	18	1059761	1059768	+	RNA	DEL	CCTTCCTT	CCTTCCTT	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr18:1059761_1059768delCCTTCCTT	ENST00000580781.1	+	0	306																											tttctttctcccttccttccttccttcc	0.447													5	9	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15297935	15297935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:15297935delG	ENST00000263388.2	-	11	1896	c.1821delC	c.(1819-1821)cgfs	p.R607fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	607	EGF-like 15; calcium-binding (Potential).		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGAAGGGCAGCGGCAGAGGT	0.652													5	4	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22836811	22836811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z061-01A-01W-0747-08	TCGA-17-Z061-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1eb07e6e-6cf8-45e4-9b5c-1a9a5d38d117	c17486dc-036a-4959-8e82-d64476356d69	g.chr19:22836811delC	ENST00000456783.2	+	3	368	c.124delC	c.(124-126)ccfs	p.P43fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTAGCTGAACCCCCAGGTAG	0.413													61	100	---	---	---	---					
