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
LOC649330	649330	broad.mit.edu	37	1	12907709	12907709	+	Missense_Mutation	SNP	C	C	T	rs4026148		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907709C>T	uc010obf.2	-	1	660	c.434G>A	c.(433-435)cGt>cAt	p.R145H	LOC649330_uc009vno.2_Missense_Mutation_p.R145H	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	145							nucleic acid binding|nucleotide binding	p.R145H(1)									TAGACGTTGACGTTTCGAGGG	0.483												
LOC649330	649330	broad.mit.edu	37	1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907886G>A	uc010obf.2	-	1	483	c.257C>T	c.(256-258)gCa>gTa	p.A86V	LOC649330_uc009vno.2_Missense_Mutation_p.A86V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	86							nucleic acid binding|nucleotide binding										TTTTGGCTCTGCAGCCAGGTT	0.488												
HSPG2	3339	broad.mit.edu	37	1	22216489	22216489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:22216489G>A	uc009vqd.3	-	5	599	c.559C>T	c.(559-561)Cga>Tga	p.R187*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	187	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGCGTCGGAACTGGAAT	0.612												
SLC2A1	6513	broad.mit.edu	37	1	43396355	43396355	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:43396355C>T	uc001cik.2	-	3	983	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	153			R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).|R -> H (in GLUT1DS2).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGGGCCCCACGAAGGGCTGT	0.647												
CDKN2C	1031	broad.mit.edu	37	1	51439609	51439610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:51439609_51439610insA	uc001csf.3	+	2	2149_2150	c.174_175insA	c.(172-177)cttagafs	p.L58fs	CDKN2C_uc001csg.3_Frame_Shift_Ins_p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	58					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GACTGCTACTTAGAGGTGCTAA	0.441			D		"""glioma, MM"""							
GBA	2630	broad.mit.edu	37	1	155184421	155184421	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:155184421G>A	uc001fjd.3	-	9	1173	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	GBA_uc001fjf.4_Silent_p.N304N|GBA_uc001fje.4_Silent_p.N265N			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	481			Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CGTCCGGGTCGTTCTTCTGAC	0.582									Gaucher disease type I			
GPR52	9293	broad.mit.edu	37	1	174417940	174417940	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:174417940C>T	uc010pmu.1	-	0		c.395G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Missense_Mutation_p.R231C			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAAAATTTGCCGTCAGCACAC	0.463												
KIF21B	23046	broad.mit.edu	37	1	200974537	200974537	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:200974537G>A	uc001gvs.2	-	4	948	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	KIF21B_uc009wzl.2_Missense_Mutation_p.R211C|KIF21B_uc001gvr.2_Missense_Mutation_p.R211C|KIF21B_uc010ppn.2_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	211	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGTGGTGCGGGACAGGGCC	0.627												
OR2T4	127074	broad.mit.edu	37	1	248525343	248525343	+	Missense_Mutation	SNP	G	G	A	rs141022739		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:248525343G>A	uc001ieh.1	+	0	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTATGACCGCTACGTGGCC	0.522												
CRTAC1	55118	broad.mit.edu	37	10	99683092	99683092	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr10:99683092C>T	uc001kou.2	-	3	843	c.487G>A	c.(487-489)Gat>Aat	p.D163N	CRTAC1_uc001kov.3_Missense_Mutation_p.D163N|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	163						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTGACCTCATCGCTCAGGATG	0.612												
DEAF1	10522	broad.mit.edu	37	11	688025	688025	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:688025C>T	uc001lqq.1	-	3	1243	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G184S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	184					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547												
OR51E1	143503	broad.mit.edu	37	11	4674216	4674216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:4674216C>T	uc021qcq.1	+	0	460	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	OR51E1_uc001lzi.4_Missense_Mutation_p.R154W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557												
OR2AG1	144125	broad.mit.edu	37	11	6807033	6807033	+	Silent	SNP	C	C	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:6807033C>G	uc001mer.2	+	0	786	c.765C>G	c.(763-765)gcC>gcG	p.A255A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGAGCTGCCACATTCATGT	0.488												
OR4C12	283093	broad.mit.edu	37	11	50004010	50004010	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:50004010A>G	uc010ria.2	-	0	62	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTAAAATGAATTCAGTCACA	0.338												
FIBP	9158	broad.mit.edu	37	11	65655866	65655866	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:65655866G>A	uc001ogd.3	-	0	145	c.24C>T	c.(22-24)ttC>ttT	p.F8F	FIBP_uc001oge.3_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.3_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	8					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGTTCCCCACGAAGATGTCCA	0.682											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MMP1	4312	broad.mit.edu	37	11	102663439	102663439	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:102663439C>T	uc001phi.2	-	6	1073	c.930G>A	c.(928-930)ccG>ccA	p.P310P	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	310	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTCAACTTCCGGGTAGAAGG	0.423												
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:123777647G>A	uc010saa.2	+	0	509	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418												
KCNMB4	27345	broad.mit.edu	37	12	70793987	70793987	+	Splice_Site	DEL	A	A	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:70793987delA	uc001svx.3	+	2	790	c.337_splice	c.e2-2	p.C113_splice		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	113					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTATTTTGTTAGTGCTCCTAT	0.333												
ANKS1B	56899	broad.mit.edu	37	12	100166859	100166859	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:100166859G>A	uc001tge.2	-	7	1386	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	323						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323												
KDM2B	84678	broad.mit.edu	37	12	121880300	121880300	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:121880300C>T	uc001uat.3	-	18	3048	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	KDM2B_uc010szy.2_Missense_Mutation_p.E422K|KDM2B_uc001uaq.3_Missense_Mutation_p.E422K|KDM2B_uc001uar.3_Missense_Mutation_p.E573K|KDM2B_uc001uas.3_Missense_Mutation_p.E913K|KDM2B_uc021rfd.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.3_Missense_Mutation_p.E230K|KDM2B_uc010szx.2_Missense_Mutation_p.E230K|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	982					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGGCTCCTCGCCCTCGCTC	0.687												
PAN3	255967	broad.mit.edu	37	13	28841518	28841518	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:28841518A>C	uc001urz.3	+	11	1924	c.1772A>C	c.(1771-1773)tAc>tCc	p.Y591S	PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.3_Missense_Mutation_p.Y279S|PAN3_uc001urx.3_Missense_Mutation_p.Y391S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	591	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGATGCCTACTTCACCAAG	0.363												
RXFP2	122042	broad.mit.edu	37	13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:32360537C>T	uc001utt.3	+	11	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_uc010aba.3_Missense_Mutation_p.T292M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358												
SLCO3A1	28232	broad.mit.edu	37	15	92663774	92663774	+	Silent	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:92663774A>C	uc002bqx.2	+	4	1290	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	363					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGGAGATTGCAGTGGTGGCTG	0.567												
CERS3	204219	broad.mit.edu	37	15	101013181	101013181	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:101013181C>T	uc002bwa.3	-	10	1290	c.719G>A	c.(718-720)cGc>cAc	p.R240H	CERS3_uc002bvz.3_Missense_Mutation_p.R229H|CERS3_uc002bwb.3_Missense_Mutation_p.R229H	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.R229H(1)									GGTCCCACTGCGAATATAATT	0.433												
PDIA2	64714	broad.mit.edu	37	16	334899	334899	+	Missense_Mutation	SNP	G	G	A	rs141542731	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr16:334899G>A	uc002cgn.1	+	8	1670	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T|PDIA2_uc010bqt.1_Missense_Mutation_p.A33T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	188					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGAGGACGTGGCCACCTTCTT	0.672												
MYH13	8735	broad.mit.edu	37	17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	rs142532419	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:10212612C>T	uc002gmk.1	-	34	5198	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1703S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667												
STAT5A	6776	broad.mit.edu	37	17	40458321	40458321	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:40458321C>T	uc002hzj.2	+	13	2178	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	STAT5A_uc010cya.2_Silent_p.N512N|STAT5A_uc010cyb.2_Silent_p.N481N|STAT5A_uc010cyc.2_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	512					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGCGCTCAACATGAAATTCA	0.572												
MPP3	4356	broad.mit.edu	37	17	41888484	41888484	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:41888484T>G	uc002ieh.3	-	14	1681	c.1420A>C	c.(1420-1422)Aac>Cac	p.N474H	MPP3_uc002iei.4_Missense_Mutation_p.N449H|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	449	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACGTACTTGTTGTGATGTAAG	0.483												
ASXL3	80816	broad.mit.edu	37	18	31320334	31320334	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:31320334G>A	uc010dmg.1	+	10	3021	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	989					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTCAACCCGGAACATATCA	0.433												
ZNF516	9658	broad.mit.edu	37	18	74154420	74154420	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:74154420G>T	uc021ulp.1	-	2	909	c.591C>A	c.(589-591)caC>caA	p.H197Q		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAACGGCTTGTGCGCCTGGT	0.667												
CCDC105	126402	broad.mit.edu	37	19	15132195	15132195	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:15132195G>A	uc002nae.2	+	3	1004	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	302					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAAGCCAAGCGGTTGTTGGTC	0.597												
TMEM161A	54929	broad.mit.edu	37	19	19232455	19232455	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:19232455T>C	uc002nlg.3	-	7	709	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	TMEM161A_uc002nli.3_Missense_Mutation_p.I124V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	227					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCCACGCGGATAGCCAGCTTG	0.677												
NUP62	23636	broad.mit.edu	37	19	50411934	50411934	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:50411934G>A	uc002prb.3	-	1	1375	c.1131C>T	c.(1129-1131)cgC>cgT	p.R377R	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.R377R|NUP62_uc002pqy.3_Silent_p.R377R|NUP62_uc002pra.3_Silent_p.R377R|NUP62_uc002pqz.3_Silent_p.R377R|NUP62_uc002prc.3_Silent_p.R301R|NUP62_uc021uya.1_Silent_p.R377R	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	377					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCCACCTCGCGGTGCAGGC	0.612												
CAD	790	broad.mit.edu	37	2	27446562	27446562	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:27446562A>G	uc002rji.3	+	6	1103	c.941A>G	c.(940-942)aAc>aGc	p.N314S	CAD_uc010eyw.3_Missense_Mutation_p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	314	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCTTCACCAACGCCAATGAT	0.537												
RHOQ	23433	broad.mit.edu	37	2	46803312	46803312	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:46803312T>A	uc002rva.3	+	2	607	c.288T>A	c.(286-288)ttT>ttA	p.F96L	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	96					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGCCTCATTTCAAAATGTGA	0.418												
LRP2	4036	broad.mit.edu	37	2	170060768	170060768	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:170060768G>A	uc002ues.3	-	41	7942	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2577					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGTGCTGCGTTCAATCCTC	0.433												
ISM1	140862	broad.mit.edu	37	20	13279712	13279712	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr20:13279712C>T	uc010gce.1	+	5	1007	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	334	AMOP.					extracellular region		p.T334T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCCTACAGCACGGCCGACATC	0.582												
SCN10A	6336	broad.mit.edu	37	3	38739171	38739171	+	Missense_Mutation	SNP	C	C	T	rs148537653		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:38739171C>T	uc003ciq.3	-	26	5540	c.5540G>A	c.(5539-5541)cGa>cAa	p.R1847Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1847					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGCTTCCATCGGAGAGTGGT	0.473												
CCBP2	1238	broad.mit.edu	37	3	42906816	42906816	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:42906816G>A	uc003cme.3	+	2	1000	c.822G>A	c.(820-822)acG>acA	p.T274T	CCBP2_uc003cmf.3_Silent_p.T274T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	274					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.T274M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTCTGCATACGCTGTTGGACC	0.537												
PLXNB1	5364	broad.mit.edu	37	3	48463528	48463528	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:48463528G>A	uc003csw.2	-	5	1776	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	502					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGAGCACGCACCACCCAC	0.557												
SOX14	8403	broad.mit.edu	37	3	137484152	137484152	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:137484152G>A	uc003erm.2	+	0	1019	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCAGAACGGCGCCTTCGGCAG	0.667												
ATR	545	broad.mit.edu	37	3	142183989	142183989	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:142183989C>A	uc003eux.4	-	40	7113	c.6991G>T	c.(6991-6993)Gac>Tac	p.D2331Y	ATR_uc003euy.1_Missense_Mutation_p.D217Y	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2331	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTCAGGTCATCTTTTGGC	0.299								Other conserved DNA damage response genes				
NSUN7	79730	broad.mit.edu	37	4	40800851	40800851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:40800851G>T	uc003gvj.4	+	9	1825	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NSUN7_uc003gvi.4_Nonsense_Mutation_p.E444*	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGTTTTTCCAGAAGAAAATGA	0.343												
NPY5R	4889	broad.mit.edu	37	4	164271493	164271493	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:164271493G>A	uc003iqn.3	+	3	250	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NPY5R_uc021xtw.1_Missense_Mutation_p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	23					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.R23L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTGCCACTCGGAATTCTGAT	0.378												
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348												
IL31RA	133396	broad.mit.edu	37	5	55206410	55206410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:55206410C>T	uc003jql.3	+	11	1744	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	IL31RA_uc003jqm.3_Nonsense_Mutation_p.R499*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.R499*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.R376*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	486					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCCCTGAAACGAAAGACCTC	0.458												
GABRB2	2561	broad.mit.edu	37	5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:160721153G>A	uc003lys.1	-	10	1692	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	492					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAATATGCGGGACCACCGA	0.468												
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:161113291G>T	uc003lyu.2	+	1	432	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)		
GABRP	2568	broad.mit.edu	37	5	170222299	170222299	+	Missense_Mutation	SNP	C	C	T	rs145233692		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:170222299C>T	uc003mau.3	+	4	526	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	GABRP_uc011dev.2_Missense_Mutation_p.R110C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	110						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R110S(2)|p.R110H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGGATGCCCGCCTCGTGGA	0.562												
HRH2	3274	broad.mit.edu	37	5	175110333	175110333	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:175110333G>A	uc003mdc.4	+	1	741	c.97G>A	c.(97-99)Gtt>Att	p.V33I	HRH2_uc003mdd.2_Missense_Mutation_p.V33I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	33					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTCATCACCGTTGCTGGCAA	0.572												
C6orf15	29113	broad.mit.edu	37	6	31079167	31079167	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:31079167C>A	uc003nsk.1	-	1	969	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	323										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCTAGCCCCACTGCAACCTAG	0.562												
KCNQ5	56479	broad.mit.edu	37	6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:73787150G>A	uc011dyh.2	+	3	1069	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_uc003pgj.4_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.3_Missense_Mutation_p.R241H|KCNQ5_uc003pgk.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	241					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R241H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGATCCTCCGCATGGTGCGC	0.443												
PRDM13	59336	broad.mit.edu	37	6	100062050	100062050	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:100062050G>A	uc003pqg.1	+	3	1800	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGAGCTGGGGTCGCTGGCCA	0.662												
BEND3	57673	broad.mit.edu	37	6	107391831	107391831	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:107391831G>A	uc003prs.2	-	4	1214	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	188										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGTTGGGGTCGTTGTCAGTGC	0.577												
SGK1	6446	broad.mit.edu	37	6	134492161	134492161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:134492161delG	uc003qen.4	-	10	1127	c.1038_splice	c.e10+1	p.F346_splice	SGK1_uc003qeo.4_Splice_Site_p.F441_splice|SGK1_uc011ect.2_Splice_Site_p.F336_splice|SGK1_uc011ecu.2_Splice_Site_p.F302_splice|SGK1_uc011ecv.2_Splice_Site_p.F360_splice|SGK1_uc011ecw.2_Splice_Site_p.F374_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	346	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.F346F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCACTCACGAAGTCATCCT	0.527												
KIAA1244	57221	broad.mit.edu	37	6	138612912	138612912	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:138612912C>T	uc003qhu.3	+	18	3261	c.3090C>T	c.(3088-3090)agC>agT	p.S1030S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1030					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCACTTCAGCGATGGTGCCT	0.647												
DNAH11	8701	broad.mit.edu	37	7	21583201	21583201	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:21583201C>T	uc003svc.3	+	0	369	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	113	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCGCCTTGCGGCTTCCCAG	0.617									Kartagener syndrome			
STK31	56164	broad.mit.edu	37	7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:23802525C>T	uc003sws.4	+	10	1466	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_uc003swt.4_Missense_Mutation_p.R444C|STK31_uc011jze.2_Missense_Mutation_p.R467C|STK31_uc010kuq.3_Missense_Mutation_p.R444C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R467C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289												
NME8	51314	broad.mit.edu	37	7	37923916	37923916	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:37923916C>T	uc003tfn.3	+	12	1378	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	336	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGATGTTTTGCGTATTATTAA	0.303												
HECW1	23072	broad.mit.edu	37	7	43360248	43360248	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:43360248G>A	uc003tid.1	+	4	972	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTTGTCCGAAAACTTTCT	0.428												
SRCRB4D	136853	broad.mit.edu	37	7	76019569	76019569	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:76019569C>T	uc003ufb.3	-	10	1883	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SRCRB4D_uc003ufa.3_Missense_Mutation_p.A14T	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	512	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCCAGCTGGCGGCACAGGAC	0.667												
KIAA1324L	222223	broad.mit.edu	37	7	86521158	86521158	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:86521158T>A	uc011kha.2	-	20	3097	c.2912A>T	c.(2911-2913)gAg>gTg	p.E971V	KIAA1324L_uc003uie.3_Missense_Mutation_p.E804V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E857V|KIAA1324L_uc003uif.2_Missense_Mutation_p.E723V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	971						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGTTCACACTCTTTTGAGTT	0.323												
MCM7	4176	broad.mit.edu	37	7	99693629	99693629	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:99693629G>A	uc003usw.1	-	10	1873	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	455	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGGCTGTGCGGTCGGCCTCA	0.612												
CPA2	1358	broad.mit.edu	37	7	129909521	129909521	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:129909521A>G	uc003vpq.3	+	2	185	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	CPA2_uc011kpc.1_Missense_Mutation_p.K56E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	56					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGATTTTTGGAAATCACCCAC	0.493												
NOS3	4846	broad.mit.edu	37	7	150699008	150699008	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:150699008C>T	uc003wif.3	+	12	1898	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	NOS3_uc011kuy.2_Silent_p.Y328Y|NOS3_uc011kva.2_Silent_p.Y534Y|NOS3_uc011kuz.2_Silent_p.Y534Y|NOS3_uc011kvb.2_Silent_p.Y534Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	534	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGAGCTACGCACAGCAGC	0.637												
GFRA2	2675	broad.mit.edu	37	8	21608207	21608207	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:21608207G>A	uc003wzu.1	-	3	1362	c.687C>T	c.(685-687)tgC>tgT	p.C229C	GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	229						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCGCTCAGCGCACGCCTGGT	0.657												
FAM150A	389658	broad.mit.edu	37	8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	rs145116532		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:53452429C>T	uc003xrd.3	-	2	492	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_uc011ldt.2_Missense_Mutation_p.R96Q	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	96						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363												
CSMD3	114788	broad.mit.edu	37	8	114326801	114326801	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:114326801T>A	uc003ynu.3	-	2	560	c.401_splice	c.e2+1	p.R134_splice	CSMD3_uc003ynt.3_Splice_Site_p.R94_splice|CSMD3_uc011lhx.2_Splice_Site_p.R134_splice|CSMD3_uc010mcx.1_Splice_Site_p.R134_splice|CSMD3_uc003ynx.4_Missense_Mutation_p.R134W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	134	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACTAACCTTGTCCTAAAG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
PTPN3	5774	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112185070C>T	uc004bed.2	-	12	1176	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	355					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900697	112900697	+	Missense_Mutation	SNP	G	G	A	rs139808664		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112900697G>A	uc004bei.2	+	8	3761	c.3569G>A	c.(3568-3570)cGa>cAa	p.R1190Q	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R727Q	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	727							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAGAGATCCGAGCAGCTCAG	0.552												
PPP1R26	9858	broad.mit.edu	37	9	138377609	138377609	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:138377609C>A	uc022bpi.1	+	0	1253	c.1253C>A	c.(1252-1254)aCc>aAc	p.T418N	PPP1R26_uc004cfr.1_Missense_Mutation_p.T418N	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	418						nucleolus	protein binding										TTGCCCGAGACCCACAGGAAA	0.622												
GRPR	2925	broad.mit.edu	37	X	16142187	16142187	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chrX:16142187G>A	uc004cxj.3	+	0	764	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	37					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTCCCACCCGGGGATCCTCT	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)