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
NOL9	79707	broad.mit.edu	37	1	6589196	6589196	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:6589196G>T	uc001ans.3	-	9	1779	c.1683C>A	c.(1681-1683)caC>caA	p.H561Q	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	561					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.T560I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CGACATCAGAGTGGGTAATCC	0.463												
MACF1	23499	broad.mit.edu	37	1	39800817	39800817	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:39800817C>T	uc021olw.1	+	0	3877	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2858					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)			CAAGGATCAACGTAAGCCAAG	0.398												
HYI	81888	broad.mit.edu	37	1	43917642	43917642	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:43917642T>C	uc001cjo.3	-	3	665	c.469A>G	c.(469-471)Act>Gct	p.T157A	SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.T84A|HYI_uc001cjm.3_Missense_Mutation_p.T84A|HYI_uc021omq.1_Missense_Mutation_p.T182A|HYI_uc001cjn.3_Missense_Mutation_p.T157A	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN	Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.	157							hydroxypyruvate isomerase activity	p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGTCAGTGATGCGGGTG	0.587												
FCRL2	79368	broad.mit.edu	37	1	157740305	157740305	+	Silent	SNP	A	A	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:157740305A>T	uc001fre.2	-	2	263	c.204T>A	c.(202-204)ctT>ctA	p.L68L	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	68	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTTTGGATAAGGAAATCTG	0.338												
ZBTB37	84614	broad.mit.edu	37	1	173840057	173840057	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:173840057C>T	uc009wwp.1	+	2	970	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.R232W|ZBTB37_uc001gjq.4_Missense_Mutation_p.R232W|ZBTB37_uc001gjr.2_Missense_Mutation_p.R232W	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGTGGGGGTCGGAGTGATGA	0.522												
HMCN1	83872	broad.mit.edu	37	1	186099745	186099745	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:186099745G>A	uc001grq.1	+	84	13375	c.13146G>A	c.(13144-13146)caG>caA	p.Q4382Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4382	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACCATCCAGTGGAACAGAA	0.488												
ASPM	259266	broad.mit.edu	37	1	197062332	197062332	+	Silent	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:197062332G>C	uc001gtu.3	-	20	9401	c.9144C>G	c.(9142-9144)gtC>gtG	p.V3048V	ASPM_uc001gtv.3_Silent_p.V1463V|ASPM_uc001gtw.4_Silent_p.V896V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3048	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCGAAGAAAGACCTGCCTTC	0.348												
USH2A	7399	broad.mit.edu	37	1	216465647	216465647	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:216465647G>C	uc001hku.1	-	9	2097	c.1710C>G	c.(1708-1710)ttC>ttG	p.F570L	USH2A_uc001hkv.3_Missense_Mutation_p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	570	Laminin EGF-like 1.				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)		GTTTACAATTGAAAGCGTAAA	0.413										HNSCC(13;0.011)		
OR2T27	403239	broad.mit.edu	37	1	248814129	248814129	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:248814129G>T	uc010pzo.2	-	0	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACGGGCGTTGCTGAACAAAC	0.468												
NEBL	10529	broad.mit.edu	37	10	21124444	21124444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:21124444C>A	uc001iqi.3	-	13	1844	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	483					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTAACCTCACTCGCTATC	0.423												
COL17A1	1308	broad.mit.edu	37	10	105798222	105798222	+	Silent	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:105798222C>A	uc001kxr.3	-	44	3181	c.3012G>T	c.(3010-3012)ccG>ccT	p.P1004P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1004	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607												
CTSF	8722	broad.mit.edu	37	11	66334786	66334786	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:66334786G>A	uc001oip.3	-	3	628	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	180					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATCTTCACAGGCAAGTCCTGG	0.522												
SLCO2B1	11309	broad.mit.edu	37	11	74904384	74904384	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:74904384G>A	uc001owb.3	+	8	1592	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLCO2B1_uc010rrq.2_Silent_p.E144E|SLCO2B1_uc010rrr.2_Silent_p.E255E|SLCO2B1_uc010rrs.2_Silent_p.E283E|SLCO2B1_uc001owc.3_Silent_p.E172E|SLCO2B1_uc001owd.3_Silent_p.E377E	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	399					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AGTTCCTGGAGCGCCAGTTTT	0.612												
C11orf63	79864	broad.mit.edu	37	11	122756720	122756720	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:122756720A>G	uc001pym.3	+	1	460	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAGAGATTATGTGCCATTC	0.488												
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57033894G>A	uc001slr.3	-	7	1262	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512												
MARS	4141	broad.mit.edu	37	12	57883052	57883053	+	Frame_Shift_Ins	INS	-	-	T	rs11540808		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57883052_57883053insT	uc001sog.3	+	2	357_358	c.203_204insT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGCAGATATTTTTTTTTGT	0.485												
FLT1	2321	broad.mit.edu	37	13	28877307	28877307	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:28877307G>C	uc001usb.3	-	29	4299	c.4014C>G	c.(4012-4014)atC>atG	p.I1338M	FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1338					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCAAACTCTAGATGGGTGGGG	0.488												
NALCN	259232	broad.mit.edu	37	13	101742235	101742235	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:101742235C>T	uc001vox.1	-	28	3541	c.3352G>A	c.(3352-3354)Gtg>Atg	p.V1118M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1118						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTTCCACCCAGCCTTTC	0.453												
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527												
RBFOX1	54715	broad.mit.edu	37	16	7629900	7629900	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:7629900C>T	uc002cys.2	+	5	1380	c.392C>T	c.(391-393)cCg>cTg	p.P131L	RBFOX1_uc010buf.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyr.1_Missense_Mutation_p.P130L|RBFOX1_uc002cyt.2_Missense_Mutation_p.P131L|RBFOX1_uc010uxz.1_Missense_Mutation_p.P174L|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.P131L|RBFOX1_uc010uyb.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyw.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyy.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyx.2_Missense_Mutation_p.P151L|RBFOX1_uc010uyc.1_Missense_Mutation_p.P151L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	131	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCCGGGATCCGGACCTCAGA	0.537												
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617												
LCAT	3931	broad.mit.edu	37	16	67976842	67976842	+	Missense_Mutation	SNP	C	C	T	rs28940886		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:67976842C>T	uc002euy.1	-	2	360	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	117			A -> T (in LCATD; dbSNP:rs28940886).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ACACCAGGGGCGTTGGACACG	0.642												
USP6	9098	broad.mit.edu	37	17	5037198	5037198	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:5037198G>A	uc002gau.1	+	14	2631	c.401G>A	c.(400-402)gGc>gAc	p.G134D	USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.G195D|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	134	Rab-GAP TBC.				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						AAGGAGAGGGGCAAGAGGTCA	0.552			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:7577141C>A	uc002gim.2	-	7	991	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; 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.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)		
KRT40	125115	broad.mit.edu	37	17	39135111	39135111	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:39135111G>A	uc010cxh.1	-	7	1302	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	381	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTCCAGCCGGGCCTTCACG	0.582												
SP6	80320	broad.mit.edu	37	17	45925367	45925367	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:45925367G>A	uc002imh.1	-	1	707	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SP6_uc002img.1_Silent_p.G143G|SP6_uc021tzc.1_Silent_p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCCCGGGTGGCCAGGTGAGG	0.706												
OTOP2	92736	broad.mit.edu	37	17	72926423	72926423	+	Silent	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:72926423C>T	uc010wrp.2	+	5	785	c.693C>T	c.(691-693)gcC>gcT	p.A231A		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	231						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCACGGCCGTCTGCCAGA	0.562												
PRPSAP1	5635	broad.mit.edu	37	17	74326154	74326154	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:74326154A>G	uc010wtb.1	-	5	517	c.296T>C	c.(295-297)aTt>aCt	p.I99T	PRPSAP1_uc010wta.1_Missense_Mutation_p.I202T	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	173					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTAGCTACAATGACTGCATT	0.393												
COLEC12	81035	broad.mit.edu	37	18	335090	335090	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr18:335090C>G	uc002kkm.3	-	5	1683	c.1468G>C	c.(1468-1470)Gct>Cct	p.A490P		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	490	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGACCAGCTGGTCCAATT	0.677												
ICAM1	3383	broad.mit.edu	37	19	10394791	10394791	+	Silent	SNP	C	C	T	rs143689328	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:10394791C>T	uc002mnq.2	+	3	1039	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	240	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GTTCCCTGGACGGGCTGTTCC	0.637												
SMARCA4	6597	broad.mit.edu	37	19	11132404	11132404	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:11132404C>T	uc010dxp.3	+	19	2980	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SMARCA4_uc010dxo.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	874	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGCAGATCCGTTGGAAGTA	0.632			"""F, N, Mis"""		NSCLC							
ZNF625	90589	broad.mit.edu	37	19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:12256527C>T	uc010dyo.2	-	3	877	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.R169Q|ZNF625_uc021upn.1_Missense_Mutation_p.R169Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408												
B3GNT3	10331	broad.mit.edu	37	19	17922705	17922705	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17922705T>C	uc002nhl.1	+	2	1040	c.893T>C	c.(892-894)gTc>gCc	p.V298A	B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	298					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ATTGATGATGTCTTCCTGGGT	0.632												
JAK3	3718	broad.mit.edu	37	19	17943330	17943330	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17943330G>A	uc002nhn.4	-	18	2778	c.2678C>T	c.(2677-2679)cCg>cTg	p.P893L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	893	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGGCTCACCCGGGCCATAGCT	0.542		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""							
ZNF792	126375	broad.mit.edu	37	19	35449589	35449589	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:35449589G>A	uc002nxh.1	-	3	1557	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTTCTGCCCGTATGAA	0.468												
FCGBP	8857	broad.mit.edu	37	19	40360855	40360855	+	Splice_Site	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:40360855C>A	uc002omp.4	-	33	15560	c.15552_splice	c.e33+1	p.P5184_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5184	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCTACTCACCGGCAAGTAT	0.577												
C19orf48	84798	broad.mit.edu	37	19	51301380	51301380	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51301380C>A	uc002ptf.3	-	4	1248	c.326G>T	c.(325-327)aGa>aTa	p.R109I	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.R109I|C19orf48_uc021uyh.1_Missense_Mutation_p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	109										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCAGGATTCTGGCCTGCTT	0.627												
SIGLEC8	27181	broad.mit.edu	37	19	51960480	51960480	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51960480G>C	uc002pwt.3	-	2	806	c.739C>G	c.(739-741)Cct>Gct	p.P247A	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	247	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTTCCAAGGAGGGTCTGGG	0.557												
SNTG2	54221	broad.mit.edu	37	2	1271233	1271233	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:1271233G>A	uc002qwq.3	+	13	1303	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	SNTG2_uc010ewi.3_Missense_Mutation_p.V265M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	392	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTCAGCATCGTGGCCGGCCA	0.522												
STRN	6801	broad.mit.edu	37	2	37152302	37152302	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:37152302T>C	uc002rpn.3	-	1	293	c.284A>G	c.(283-285)aAg>aGg	p.K95R	STRN_uc010ezx.3_Missense_Mutation_p.K95R	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	95					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAGATCCTTCTTCAAATTTTC	0.368												
SOCS5	9655	broad.mit.edu	37	2	46987001	46987001	+	Silent	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:46987001G>T	uc021vgx.1	+	0	1332	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	SOCS5_uc002rvf.3_Silent_p.P444P|SOCS5_uc002rvg.3_Silent_p.P444P	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	444	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCATGACCCGTGTGTATTTC	0.443												
IL1R1	3554	broad.mit.edu	37	2	102793083	102793083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:102793083C>T	uc002tbq.3	+	11	1892	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IL1R1_uc010fix.3_Missense_Mutation_p.S494F|IL1R1_uc002tbr.3_Missense_Mutation_p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	525	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGACCACAGTCTGCAAAGACA	0.468												
LCT	3938	broad.mit.edu	37	2	136558294	136558294	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:136558294G>A	uc002tuu.1	-	11	4760	c.4749C>T	c.(4747-4749)aaC>aaT	p.N1583N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1583	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTACACATCGTTGTACAGAT	0.537												
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448												
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						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)			TTGGGTTGCCGCCAACTTGGC	0.488												
FRG1B	284802	broad.mit.edu	37	20	29624070	29624070	+	Missense_Mutation	SNP	G	G	A	rs79198850		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr20:29624070G>A	uc010ztl.1	+	0	36	c.4G>A	c.(4-6)Gct>Act	p.A2T	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A32T(2)|p.R2M(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCAGTTTATGGCTGTCAAATT	0.279												
ADRBK2	157	broad.mit.edu	37	22	26117315	26117315	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:26117315G>A	uc003abx.4	+	19	2003	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	619	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GACAAAAAATGCATTTTGTTC	0.274												
DDX17	10521	broad.mit.edu	37	22	38883964	38883964	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:38883964T>C	uc003avy.4	-	11	1707	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.K535R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	456					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTCCAGCACTTTGATAAGCTC	0.547												
LRIG1	26018	broad.mit.edu	37	3	66432740	66432740	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:66432740C>A	uc003dmx.3	-	15	2588	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.R478S|LRIG1_uc003dmw.3_Missense_Mutation_p.R524S|LRIG1_uc010hnz.3_Missense_Mutation_p.R574S|LRIG1_uc010hoa.3_Missense_Mutation_p.R835S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	858						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACCCTCGGTCCTGACCACGG	0.552												
STXBP5L	9515	broad.mit.edu	37	3	120957900	120957900	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:120957900C>T	uc003eec.4	+	12	1407	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	STXBP5L_uc011bji.2_Missense_Mutation_p.P423S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	423					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATTGTCCTCCGGATTTGAT	0.308												
SLC25A36	55186	broad.mit.edu	37	3	140692641	140692641	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:140692641G>A	uc003etr.2	+	5	771	c.536G>A	c.(535-537)gGc>gAc	p.G179D	SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	179					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTTTATAGGGGCATGTCTGCT	0.368												
BOD1L1	259282	broad.mit.edu	37	4	13603517	13603517	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:13603517T>G	uc003gmz.1	-	9	5124	c.5007A>C	c.(5005-5007)agA>agC	p.R1669S	BOD1L1_uc010idr.1_Missense_Mutation_p.R1006S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1669							DNA binding										TTTCTGAGTCTCTACTTAAAG	0.373												
PAQR3	152559	broad.mit.edu	37	4	79856373	79856373	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:79856373A>G	uc003hlp.1	-	1	454	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	84						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCCAGGGTGAAGAAGAGAAAG	0.368												
HNRNPA1P12	644037	broad.mit.edu	37	5	79655243	79655243	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:79655243G>A								CRSP8P (7458 upstream) : ZFYVE16 (48595 downstream)																							ccacctccacgaccaccacca	0.517												
APC	324	broad.mit.edu	37	5	112175591	112175591	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:112175591A>G	uc003kpz.4	+	16	4493	c.4300A>G	c.(4300-4302)Agc>Ggc	p.S1434G	APC_uc011cvt.2_Missense_Mutation_p.S1416G|APC_uc003kpy.4_Missense_Mutation_p.S1434G|APC_uc010jbz.3_Missense_Mutation_p.S1151G|APC_uc010jca.3_Missense_Mutation_p.S734G	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1434	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATGCCACCAAGCAGAAGTAA	0.483		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
PCDHGC5	9708	broad.mit.edu	37	5	140773167	140773167	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:140773167A>G	uc003lkd.2	+	0	1685	c.787A>G	c.(787-789)Act>Gct	p.T263A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.T263A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCTGCTTACTGTAACAGC	0.473												
SPRY4	81848	broad.mit.edu	37	5	141694230	141694230	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:141694230G>A	uc010jgi.1	-	2	754	c.513C>T	c.(511-513)gtC>gtT	p.V171V	SPRY4_uc003lml.2_Silent_p.V148V|SPRY4_uc021yet.1_Silent_p.V148V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	148	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTGGGACCGCCGGGC	0.652									Testicular Cancer, Familial Clustering of			
HLA-DOA	3111	broad.mit.edu	37	6	32974898	32974898	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:32974898G>A	uc003ocr.3	-	3	784	c.708C>T	c.(706-708)acC>acT	p.T236T	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	236					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGATGAGGACGGTGCCCACGA	0.627												
LRRC73	221424	broad.mit.edu	37	6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:43475289_43475291delTCC	uc003ovk.1	-	4	1684_1686	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E	LRRC73_uc003ovj.1_In_Frame_Del_p.70_71EE>E	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631												
PLA2G7	7941	broad.mit.edu	37	6	46678392	46678392	+	Silent	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:46678392G>T	uc010jzf.3	-	7	936	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	PLA2G7_uc021zae.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	223					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GCTCTTTGCCGTACCTAATAT	0.323												
QKI	9444	broad.mit.edu	37	6	163984582	163984585	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:163984582_163984585delCAGA	uc003qui.3	+	5	1316_1319	c.765_768delCAGA	c.(763-768)atcagafs	p.I255fs	QKI_uc003quj.3_Frame_Shift_Del_p.I247fs|QKI_uc003quh.3_Frame_Shift_Del_p.I247fs|QKI_uc003que.3_Frame_Shift_Del_p.I255fs|QKI_uc003quf.3_Frame_Shift_Del_p.I255fs|QKI_uc003qug.3_Frame_Shift_Del_p.I255fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	255					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTGATCAGACAAATACAGA	0.554												
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|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(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(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)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
HYAL4	23553	broad.mit.edu	37	7	123508443	123508443	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:123508443G>A	uc003vlc.3	+	2	754	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	HYAL4_uc011knz.2_Missense_Mutation_p.R39Q	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	39					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCTGCTCGACTTCCAATT	0.323												
PLXNA4	91584	broad.mit.edu	37	7	131859666	131859666	+	Silent	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:131859666C>T	uc003vra.4	-	20	4117	c.3888G>A	c.(3886-3888)ctG>ctA	p.L1296L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1296						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCCGTCTGCAGCTCGGCAA	0.562												
CHRM2	1129	broad.mit.edu	37	7	136700324	136700324	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:136700324G>C	uc003vtf.1	+	3	1335	c.712G>C	c.(712-714)Gga>Cga	p.G238R	CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	238					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTGGTACAAGGAAGGATAGT	0.507												
TNKS	8658	broad.mit.edu	37	8	9620738	9620738	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:9620738A>G	uc003wss.3	+	21	3361	c.3356A>G	c.(3355-3357)cAg>cGg	p.Q1119R	TNKS_uc011kww.2_Missense_Mutation_p.Q882R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1119	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGAATATCAGTCAGTGGAA	0.358												
GSDMC	56169	broad.mit.edu	37	8	130762682	130762682	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:130762682T>C	uc003ysr.3	-	10	1960	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	360						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTCACCATGTTCATCAGGTCC	0.468												
PYCRL	65263	broad.mit.edu	37	8	144690265	144690265	+	Silent	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:144690265A>G	uc003yyy.3	-	1	189	c.159T>C	c.(157-159)agT>agC	p.S53S	PYCRL_uc011lkm.2_Silent_p.S53S|PYCRL_uc011lkn.2_Non-coding_Transcript	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.	41					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGTTGGTGCACTGGCCAGTA	0.532												
MPDZ	8777	broad.mit.edu	37	9	13107002	13107002	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:13107002G>A	uc010mhy.3	-	44	6145	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W	MPDZ_uc003zkx.4_Missense_Mutation_p.R254W|MPDZ_uc003zky.4_Missense_Mutation_p.R593W|MPDZ_uc010mib.3_Missense_Mutation_p.R764W|MPDZ_uc010mhx.3_Missense_Mutation_p.R881W|MPDZ_uc011lmm.2_Missense_Mutation_p.R918W|MPDZ_uc003zkz.4_Missense_Mutation_p.R752W|MPDZ_uc010mhz.3_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.2_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.4_Missense_Mutation_p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2059	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTGTCCGTTTAAGGATG	0.483												
ZCCHC6	79670	broad.mit.edu	37	9	88967843	88967843	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:88967843T>C	uc004aou.3	-	1	410	c.272A>G	c.(271-273)aAt>aGt	p.N91S	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aot.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.3_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.2_Missense_Mutation_p.N91S	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	91					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCTGTCATTCATCCAAGC	0.438												
PHF8	23133	broad.mit.edu	37	X	54037681	54037681	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:54037681C>G	uc004dsu.3	-	7	1174	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	PHF8_uc004dsv.3_Missense_Mutation_p.A140P|PHF8_uc004dst.3_Missense_Mutation_p.A274P|PHF8_uc004dsw.3_Missense_Mutation_p.A274P|PHF8_uc004dsx.3_Missense_Mutation_p.A38P|PHF8_uc004dsy.3_Missense_Mutation_p.A274P	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	310	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGATTGGCATTTGTTGGG	0.448												
MAGEE1	57692	broad.mit.edu	37	X	75649443	75649443	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:75649443G>C	uc004ecm.2	+	0	1398	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	374	Pro-rich.					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						CACCGCCTCTGATGGATCGGA	0.677												
RPA4	29935	broad.mit.edu	37	X	96139742	96139742	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:96139742A>G	uc004efv.4	+	0	836	c.433A>G	c.(433-435)Att>Gtt	p.I145V	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	145					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGTATTGAAAATTCATGTCCT	0.453								Other identified genes with known or suspected DNA repair function				
