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
AGMAT	79814	broad.mit.edu	37	1	15904246	15904246	+	Silent	SNP	G	G	A	rs148750290	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:15904246G>A	uc001awv.2	-	4	977	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	278					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGAGCGTCAATATCAA	0.532												
EPHA8	2046	broad.mit.edu	37	1	22924647	22924647	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:22924647G>A	uc001bfx.1	+	11	2245	c.2120G>A	c.(2119-2121)cGc>cAc	p.R707H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	707	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCAGGCCGCCTGGCAATG	0.622												
HTR1D	3352	broad.mit.edu	37	1	23520071	23520071	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:23520071G>A	uc001bgn.3	-	0	1152	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	214					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577												
KLHDC9	126823	broad.mit.edu	37	1	161068632	161068632	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161068632C>T	uc001fxr.3	+	0	452	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.R103C|KLHDC9_uc001fxs.3_Missense_Mutation_p.R103C	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	103										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGTCTCGCCGCTTGGCCAC	0.726												
ADAMTS4	9507	broad.mit.edu	37	1	161165991	161165991	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161165991G>T	uc001fyt.4	-	2	1488	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	354	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGCTGACTGGAGCCCATCA	0.577												
SLC9C2	284525	broad.mit.edu	37	1	173552735	173552735	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:173552735T>A	uc001giz.2	-	5	973	c.550A>T	c.(550-552)Att>Ttt	p.I184F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	184					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCTCCTCTAATGAGATCAATG	0.328												
PHLDA3	23612	broad.mit.edu	37	1	201437745	201437745	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:201437745C>T	uc021phf.1	-	0	170	c.170G>A	c.(169-171)cGc>cAc	p.R57H	PHLDA3_uc001gwq.3_Missense_Mutation_p.R57H	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 3 (PHLDA3), mRNA.	57	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GGCCTTGATGCGGGCGAAGCT	0.687												
KDM5B	10765	broad.mit.edu	37	1	202718129	202718129	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:202718129C>A	uc009xag.3	-	14	2184	c.2068G>T	c.(2068-2070)Gac>Tac	p.D690Y	KDM5B_uc001gyf.3_Missense_Mutation_p.D654Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	654					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGCCATGTCTTTCTGAACA	0.403												
USH2A	7399	broad.mit.edu	37	1	215972257	215972257	+	Missense_Mutation	SNP	C	C	T	rs140746096		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:215972257C>T	uc001hku.1	-	49	10337	c.9950G>A	c.(9949-9951)cGc>cAc	p.R3317H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3317					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGGAAGGCGATTGTACAC	0.473										HNSCC(13;0.011)		
C1orf65	164127	broad.mit.edu	37	1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:223568231C>T	uc001hoa.2	+	0	1517	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607												
RYR2	6262	broad.mit.edu	37	1	237863751	237863751	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:237863751C>T	uc001hyl.1	+	64	9471	c.9351C>T	c.(9349-9351)ttC>ttT	p.F3117F	RYR2_uc010pxz.1_Silent_p.F72F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3117					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)			AGCATCAGTTCGGAGAAGACC	0.373												
NLRP3	114548	broad.mit.edu	37	1	247587925	247587925	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:247587925G>T	uc001icr.3	+	4	1318	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	NLRP3_uc001ics.3_Missense_Mutation_p.A394S|NLRP3_uc001icu.3_Missense_Mutation_p.A394S|NLRP3_uc001icw.3_Missense_Mutation_p.A394S|NLRP3_uc001icv.3_Missense_Mutation_p.A394S|NLRP3_uc010pyw.2_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	394	NACHT.				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)			CCAAGCCAGGGCAGCCTTCAG	0.537												
OIT3	170392	broad.mit.edu	37	10	74666378	74666378	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:74666378A>G	uc001jte.1	+	3	787	c.569A>G	c.(568-570)aAc>aGc	p.N190S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	190	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCAAAACAACGGTGGCTGC	0.488												
EBF3	253738	broad.mit.edu	37	10	131640486	131640486	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:131640486G>C	uc021qav.1	-	12	1298	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	EBF3_uc001lki.2_Missense_Mutation_p.I413M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	422					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCAGGGTGGGGATCTGGTTGT	0.617												
OR52J3	119679	broad.mit.edu	37	11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:5068212C>T	uc010qyv.2	+	0	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468												
SLC5A12	159963	broad.mit.edu	37	11	26718717	26718717	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:26718717G>A	uc001mra.2	-	7	1347	c.1034C>T	c.(1033-1035)aCt>aTt	p.T345I	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.T345I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	345					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAACCTCAGAGTTCCACTGAA	0.438												
PYGM	5837	broad.mit.edu	37	11	64521011	64521011	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:64521011G>A	uc001oax.4	-	10	2200	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PYGM_uc001oay.4_Silent_p.S373S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGAGGATCTCGGAGTGGATGC	0.652												
GPR83	10888	broad.mit.edu	37	11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	rs145628763	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:94113625C>T	uc001pet.2	-	3	1134	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	321						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517												
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	rs142032267		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:101793446G>A	uc001pgm.3	+	1	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R24Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	68							protein binding	p.R68L(2)|p.R68*(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303												
GRIN2B	2904	broad.mit.edu	37	12	13716353	13716353	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:13716353C>T	uc001rbt.2	-	12	3998	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1273					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCGTTTGACGTCACCGCCA	0.582												
EPYC	1833	broad.mit.edu	37	12	91363838	91363838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:91363838G>A	uc001tbk.3	-	5	874	c.781C>T	c.(781-783)Cga>Tga	p.R261*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	261					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R261G(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGAAGGGCTCGTAGATTTTCT	0.478												
NR1H4	9971	broad.mit.edu	37	12	100897255	100897255	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:100897255G>T	uc001tht.2	+	0	118	c.90G>T	c.(88-90)atG>atT	p.M30I	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.M30I	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	30					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGGAAATGATGAGTATGAAGC	0.453												
DAO	1610	broad.mit.edu	37	12	109293186	109293186	+	Missense_Mutation	SNP	C	C	T	rs140015394		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:109293186C>T	uc001tnr.4	+	9	1518	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	DAO_uc001tnq.4_Missense_Mutation_p.R217W|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	283					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AACTGGCTTCCGGCCAGTACG	0.458												
RPGRIP1	57096	broad.mit.edu	37	14	21793505	21793505	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr14:21793505C>A	uc001wag.3	+	14	2330	c.2330C>A	c.(2329-2331)aCc>aAc	p.T777N	RPGRIP1_uc001wah.3_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.3_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.3_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.3_Missense_Mutation_p.T94N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	777					response to stimulus|visual perception	cilium		p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TACCTGTCAACCGATGTGCTT	0.542												
LOXL1	4016	broad.mit.edu	37	15	74238821	74238821	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:74238821C>T	uc002awc.1	+	2	1611	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	425	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCCCAGCGCGTGAAGAACC	0.692												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
USP6	9098	broad.mit.edu	37	17	5050405	5050405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:5050405C>T	uc002gau.1	+	28	4577	c.2347C>T	c.(2347-2349)Caa>Taa	p.Q783*	USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	783					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAAAAAGTACAACTCTCAGT	0.383			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
MYO1D	4642	broad.mit.edu	37	17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:31105570G>A	uc002hho.1	-	2	338	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	109	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393												
MYO19	80179	broad.mit.edu	37	17	34856982	34856982	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:34856982G>A	uc010wcy.2	-	22	3166	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.T525I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	725						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGAGTCACCAGTTATGGCTGC	0.577												
TANC2	26115	broad.mit.edu	37	17	61428697	61428697	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:61428697A>G	uc002jal.4	+	10	1695	c.1672A>G	c.(1672-1674)Att>Gtt	p.I558V	TANC2_uc010wpe.2_Missense_Mutation_p.I468V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	558							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGGATACAATTGTATCGTT	0.338												
PTPRM	5797	broad.mit.edu	37	18	7888125	7888125	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr18:7888125C>A	uc002knn.4	+	2	721	c.218C>A	c.(217-219)gCc>gAc	p.A73D	PTPRM_uc010dkv.3_Missense_Mutation_p.A73D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	73	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGTGAATGCCTCTGGGAGA	0.453												
MUC16	94025	broad.mit.edu	37	19	9087832	9087832	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:9087832G>A	uc002mkp.3	-	0	4187	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAGGATCCGTAGTGGTGAT	0.527												
RAB3D	9545	broad.mit.edu	37	19	11448018	11448018	+	Missense_Mutation	SNP	C	C	T	rs144965675	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:11448018C>T	uc002mqx.3	-	1	319	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	20					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AACATATAGTCGAAGTTCTGA	0.557												
OR10H2	26538	broad.mit.edu	37	19	15839588	15839589	+	Frame_Shift_Ins	INS	-	-	CTTATTGTGG			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:15839588_15839589insCTTATTGTGG	uc002nbm.2	+	0	755_756	c.735_736insCTTATTGTGG	c.(733-738)caccttfs	p.H245fs		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGCCTCTCACCTTATTGTGGT	0.540												
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:23543307G>C	uc002nre.3	-	3	2587	c.2474C>G	c.(2473-2475)cCc>cGc	p.P825R	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P793R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403												
C5AR1	728	broad.mit.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:47823716C>T	uc002pgj.1	+	1	731	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	228					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.R228R(2)|p.R228W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612												
KCNS3	3790	broad.mit.edu	37	2	18112318	18112318	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:18112318G>A	uc021veh.1	+	0	43	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KCNS3_uc002rcv.3_Missense_Mutation_p.E15K|KCNS3_uc002rcw.3_Missense_Mutation_p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	15					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAAGACGAGGAACTTGTCAA	0.537												
APOB	338	broad.mit.edu	37	2	21227512	21227512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:21227512C>T	uc002red.3	-	26	11952	c.11824G>A	c.(11824-11826)Gcc>Acc	p.A3942T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTTAGAGGCTAACGTACCA	0.358												
GPD2	2820	broad.mit.edu	37	2	157407115	157407115	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:157407115G>A	uc002tzf.4	+	8	1187	c.827_splice	c.e8-1	p.G276_splice	GPD2_uc010zch.2_Splice_Site_p.G49_splice|GPD2_uc002tzd.4_Splice_Site_p.G276_splice|GPD2_uc002tze.1_Splice_Site	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	276					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCACAGGGCAGGAATTTG	0.438												
NYAP2	57624	broad.mit.edu	37	2	226447519	226447519	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:226447519G>A	uc002voe.2	+	3	1561	c.1386G>A	c.(1384-1386)tcG>tcA	p.S462S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.S232S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	462	Pro-rich.																CTGTGCATTCGGGCAGCCTCT	0.622												
UGT1A1	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:234591304G>A	uc002vut.3	+	0	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A241T	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	244					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTGTCACGGCATATGATCT	0.413												
COL6A3	1293	broad.mit.edu	37	2	238275630	238275630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:238275630C>A	uc002vwl.2	-	10	5485	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1734	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572												
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr20:23016973G>A	uc002wsr.2	+	0	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552												
CLDN14	23562	broad.mit.edu	37	21	37833888	37833888	+	Missense_Mutation	SNP	C	C	T	rs142205038		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr21:37833888C>T	uc021wja.1	-	0	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvk.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	36					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						TTGGTGCCCACGTGCGCTGTC	0.622												
CDCP1	64866	broad.mit.edu	37	3	45132920	45132920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:45132920C>T	uc003com.3	-	6	1873	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	580						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTCTGGGCACGCTGATGTTC	0.607												
GSK3B	2932	broad.mit.edu	37	3	119812236	119812236	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:119812236G>C	uc003edo.3	-	0	1029	c.46C>G	c.(46-48)Ccg>Gcg	p.P16A	GSK3B_uc003edn.3_Missense_Mutation_p.P16A|BC035247_uc003edp.3_5'Flank	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	16					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGCTGCACCGGCTTGCAGCTC	0.483												
WFS1	7466	broad.mit.edu	37	4	6302612	6302612	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:6302612G>A	uc003giy.3	+	7	1256	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	WFS1_uc003gix.3_Missense_Mutation_p.V364M|WFS1_uc003giz.3_Missense_Mutation_p.V182M	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	364					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACCCTCAAGGTGTTCCAGGA	0.572												
TLR6	10333	broad.mit.edu	37	4	38830723	38830723	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:38830723C>T	uc010ifg.2	-	1	493	c.372G>A	c.(370-372)agG>agA	p.R124R	TLR6_uc003gtm.3_Silent_p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	124					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATCTAAATGCCTGAAACTCA	0.363												
PDGFRA	5156	broad.mit.edu	37	4	55155241	55155241	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:55155241G>C	uc003han.4	+	20	3171	c.2840G>C	c.(2839-2841)aGt>aCt	p.S947T	PDGFRA_uc003haa.3_Missense_Mutation_p.S707T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	947	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCACCTGAGTGAGATTGTG	0.498			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
PDCL2	132954	broad.mit.edu	37	4	56435994	56435994	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:56435994T>C	uc003hbb.3	-	3	356	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	85										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTTGTTTTTTCTTAAGAGCT	0.289												
PPBP	5473	broad.mit.edu	37	4	74853312	74853312	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:74853312G>T	uc003hhj.3	-	1	293	c.206C>A	c.(205-207)aCc>aAc	p.T69N		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	69					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AATTCCAGAGGTTGTCTTTAT	0.418												
TTC29	83894	broad.mit.edu	37	4	147824706	147824706	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:147824706G>A	uc003ikx.4	-	6	904	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TTC29_uc003ikw.4_Silent_p.Y192Y|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	192							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCTTCCTCGTAGAGAAGAC	0.458												
WWC2	80014	broad.mit.edu	37	4	184166575	184166576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:184166575_184166576insA	uc010irx.3	+	5	791_792	c.609_610insA	c.(607-612)gataaafs	p.D203fs	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	203										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAATTGATAAAAAAATGTC	0.356												
CDC20B	166979	broad.mit.edu	37	5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:54423154C>T	uc003jpo.2	-	7	1097	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	CDC20B_uc003jpn.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R307Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	307								p.R307Q(2)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438												
FAT2	2196	broad.mit.edu	37	5	150947475	150947475	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:150947475C>T	uc003lue.4	-	0	1031	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	FAT2_uc010jhx.1_Missense_Mutation_p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	340					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAGGGCCGCTCCCACTC	0.502												
LARP1	23367	broad.mit.edu	37	5	154193504	154193504	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:154193504G>A	uc003lvo.3	+	18	2932	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	LARP1_uc021ygh.1_Missense_Mutation_p.G842S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	1047							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGGTGGCGGCGGTGAGGG	0.637												
EYA4	2070	broad.mit.edu	37	6	133844286	133844286	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr6:133844286T>C	uc011ecs.2	+	17	2043	c.1727T>C	c.(1726-1728)aTt>aCt	p.I576T	EYA4_uc011ecq.2_Missense_Mutation_p.I516T|EYA4_uc011ecr.2_Missense_Mutation_p.I522T|EYA4_uc003qec.4_Missense_Mutation_p.I570T|EYA4_uc003qed.4_Missense_Mutation_p.I570T|EYA4_uc003qee.4_Missense_Mutation_p.I547T|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	570					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)		GCTTTCCCCATTGAGAATATT	0.383												
SDK1	221935	broad.mit.edu	37	7	4050700	4050700	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:4050700C>T	uc003smx.3	+	14	2373	c.2234C>T	c.(2233-2235)gCg>gTg	p.A745V	SDK1_uc010kso.3_Missense_Mutation_p.A21V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	745	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGTGTGCGCGGTGAATGAA	0.622												
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:19765216C>T	uc011jyg.2	-	2	465	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498												
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55241694	55241694	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241694G>C	uc003tqk.3	+	17	2388	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	EGFR_uc022adm.1_Missense_Mutation_p.K714N|EGFR_uc010kzg.2_Missense_Mutation_p.K669N|EGFR_uc022adn.1_Missense_Mutation_p.K669N|EGFR_uc011kco.2_Missense_Mutation_p.K661N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	714	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K714N(2)|p.K713F(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AATTCAAAAAGATCAAAGTGC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ZNF3	7551	broad.mit.edu	37	7	99669056	99669056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:99669056G>A	uc003uss.3	-	2	1390	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.3_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.3_Nonsense_Mutation_p.Q351*|ZNF3_uc003ust.4_Nonsense_Mutation_p.Q351*			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	351				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).	cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTGAGCTCTGGCTGAAGGCT	0.473												
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:100779013G>A	uc003uxt.3	+	6	1166	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_uc011kkj.2_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582												
RELN	5649	broad.mit.edu	37	7	103205920	103205920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:103205920C>T	uc022ajr.1	-	33	5175	c.5015G>A	c.(5014-5016)tGt>tAt	p.C1672Y	RELN_uc022ajq.1_Missense_Mutation_p.C1672Y|RELN_uc010liz.3_Missense_Mutation_p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1672					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGCTTGCTACAGCCCATGCT	0.448												
NRCAM	4897	broad.mit.edu	37	7	107824688	107824688	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:107824688C>A	uc022aka.1	-	18	2407	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	NRCAM_uc011kmk.2_Missense_Mutation_p.W767C|NRCAM_uc003vfd.3_Missense_Mutation_p.W748C|NRCAM_uc003vfe.3_Missense_Mutation_p.W748C|NRCAM_uc003vfc.3_Missense_Mutation_p.W751C	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	767	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTCACCTTCCACGTAATCA	0.368												
FAM71F1	84691	broad.mit.edu	37	7	128355633	128355633	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:128355633G>A	uc003vno.1	+	0	191	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	46										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGGAGAGCCGAACCCTGGAG	0.522												
UBE3C	9690	broad.mit.edu	37	7	157041143	157041143	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:157041143G>A	uc010lqs.3	+	18	2875	c.2563G>A	c.(2563-2565)Gac>Aac	p.D855N	UBE3C_uc003wni.4_Missense_Mutation_p.D218N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	855	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCCGACGTGGACATTCACCA	0.502												
UBR5	51366	broad.mit.edu	37	8	103289358	103289358	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:103289358C>T	uc003ykr.2	-	44	6806	c.6351G>A	c.(6349-6351)cgG>cgA	p.R2117R	UBR5_uc003yks.2_Silent_p.R2117R	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2117					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R2117R(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTTTTTTGCCGGTTTTGCA	0.378												
COL14A1	7373	broad.mit.edu	37	8	121267573	121267573	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:121267573G>T	uc003yox.3	+	22	3112	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	COL14A1_uc003yoy.3_Missense_Mutation_p.R627S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	949	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCTATAGGGTTGTTATAG	0.453												
IFNE	338376	broad.mit.edu	37	9	21481272	21481272	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr9:21481272C>T	uc003zpg.3	-	0	1041	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	141					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AACTTGTAATCTAAGGTTATC	0.433												
IL3RA	3563	broad.mit.edu	37	X	1484071	1484071	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:1484071C>T	uc004cps.3	+	8	1149	c.800C>T	c.(799-801)aCg>aTg	p.T267M	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T189M	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	267						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATCCTGGAACGTACACAGTA	0.542												
STS	412	broad.mit.edu	37	X	7177573	7177573	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:7177573G>A	uc004cry.4	+	4	826	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	194					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGATCGTCGGGGTCACCCTC	0.567									Ichthyosis			
SATL1	340562	broad.mit.edu	37	X	84349151	84349151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:84349151delA	uc004een.3	-	3	1859	c.1859delT	c.(1858-1860)gtcfs	p.V620fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	433							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCTTGTGTGACATAAAAGTC	0.338												
