Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF627	199692	broad.mit.edu	37	19	11727528	11727528	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:11727528C>T	ENST00000361113.5	+	4	418	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZNF627_ENST00000588174.1_Silent_p.L67L	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGAGAGACTCTGTGAAAGTA	0.328000													10	86					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136643	40136643	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:40136643T>A	ENST00000278198.2	-	2	3163	c.1200A>T	c.(1198-1200)aaA>aaT	p.K400N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K400N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	400	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTATCCGCACTTTGTACGCCC	0.463000													38	160					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021855	96021855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:96021855C>T	ENST00000297954.4	+	11	3025	c.3025C>T	c.(3025-3027)Ctt>Ttt	p.L1009F	WNK2_ENST00000395477.2_Missense_Mutation_p.L1009F|WNK2_ENST00000427277.2_Missense_Mutation_p.L621F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.L621F|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1009					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCCCACCTTCCTGAACA	0.687000													3	17					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186310164	186310164	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:186310164T>C	ENST00000367478.3	-	29	4312	c.4016A>G	c.(4015-4017)aAc>aGc	p.N1339S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1339					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTACCTGGTTACGTGCTTT	0.393000			T	NTRK1	papillary thyroid								32	66					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756831	756831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr18:756831C>G	ENST00000577961.1	-	2	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	YES1_ENST00000584307.1_5'UTR|YES1_ENST00000314574.4_5'UTR|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	0					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AGCCCATTATCAAATCTACAG	0.343000													11	42					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581498	26581498	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:26581498G>A	ENST00000376261.3	+	14	1994	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	GAD2_ENST00000259271.3_Silent_p.G497G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	497					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGTTTGATGGGAAGGTATGTA	0.388000													10	50					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	C	rs140334906		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:51515672A>C	ENST00000328188.1	+	1	391	c.391A>C	c.(391-393)Atg>Ctg	p.M131L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478000													46	120					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129886441	129886441	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:129886441C>T	ENST00000281142.5	-	11	1313	c.810G>A	c.(808-810)gaG>gaA	p.E270E	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	270						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGATGCTTCCTCTCTTCCAT	0.343000													14	44					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196866401	196866401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:196866401G>A	ENST00000312428.6	-	11	1271	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	DNAH7_ENST00000410072.1_Missense_Mutation_p.P391S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	391	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACTTACTGGGGGTTGTGCA	0.368000													21	56					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133948645	133948645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:133948645G>A	ENST00000285928.2	+	20	2465	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	799							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCAACACAGACAACACTCG	0.458000													9	87					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994922	140994922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:140994922C>T	ENST00000285879.4	+	4	2018	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	578							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTCCTCACTACTTTCC	0.582000										HNSCC(15;0.026)			177	139					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392380	74392380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:74392380C>A	ENST00000319380.7	-	14	2702	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	880							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCACTGCTTCCATCTTCTCC	0.567000													85	146					2.93434e-44	3.41517e-44	1	1	0
PRLR	5618	broad.mit.edu	37	5	35070259	35070259	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:35070259A>C	ENST00000382002.5	-	7	1078	c.652T>G	c.(652-654)Tgg>Ggg	p.W218G	PRLR_ENST00000511486.1_Missense_Mutation_p.W117G|PRLR_ENST00000231423.3_Missense_Mutation_p.W218G|PRLR_ENST00000342362.5_Missense_Mutation_p.W117G|PRLR_ENST00000348262.3_Missense_Mutation_p.W218G|PRLR_ENST00000310101.5_Missense_Mutation_p.W218G|PRLR_ENST00000542609.1_Missense_Mutation_p.W218G|PRLR_ENST00000397391.3_Missense_Mutation_p.W147G|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.W218G	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	218	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCTGGACTCCATGCACTCCAG	0.433000													14	31					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687979	61687979	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:61687979G>T	ENST00000577390.1	-	12	2887	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	CDH8_ENST00000299345.6_Silent_p.R645R|CDH8_ENST00000577730.1_Silent_p.R645R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGCCGCCGTAGAGTTACA	0.383000													10	53					3.86212e-05	4.0523e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141751681	141751681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:141751681G>A	ENST00000389484.3	-	16	3498	c.2527C>T	c.(2527-2529)Cac>Tac	p.H843Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACATATGTGAGGTAGTGCT	0.408000										TSP Lung(27;0.18)			18	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			27	39					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945701	53945701	+	RNA	SNP	C	C	T	rs12984381	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53945701C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTGATAATCTCAAGGAGGCAG	0.428000													5	73					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242784	98242784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:98242784C>T	ENST00000430669.2	-	6	1220	c.635G>A	c.(634-636)tGg>tAg	p.W212*	PTCH1_ENST00000331920.6_Nonsense_Mutation_p.W278*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.W277*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.W212*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.W127*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.W127*			Q13635	PTC1_HUMAN	patched 1	278					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W278*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CATTTCCTCCCAGCTGTCCAC	0.498000													44	39					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642000													45	125					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74652067	74652067	+	Silent	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74652067A>T	ENST00000348227.4	+	7	688	c.600A>T	c.(598-600)ccA>ccT	p.P200P	WDR54_ENST00000409791.1_Silent_p.P148P|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	200										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTCAGGGCCAGAATTCACAT	0.522000													32	90					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101840399	101840399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:101840399G>A	ENST00000360264.3	+	15	1761	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G570R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G468R|CUX1_ENST00000550008.2_Missense_Mutation_p.G570R|CUX1_ENST00000549414.2_Missense_Mutation_p.G570R|CUX1_ENST00000546411.2_Missense_Mutation_p.G468R|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	570					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCACAATATCGGACAACGTAT	0.542000													82	121					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74494189	74494189	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:74494189C>T	ENST00000373379.1	+	1	265	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Silent_p.L34L			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	34					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ACCTGGCGATCTGATCCTGGA	0.612000													4	12					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914709	39914709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:39914709C>T	ENST00000393931.3	-	10	1833	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	JUP_ENST00000310706.5_Missense_Mutation_p.R572Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R572Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	572					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATGGGGTCCCGGGCGAGGAT	0.627000													10	47					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164217	2164217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:2164217C>T	ENST00000262304.4	-	11	3015	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	PKD1_ENST00000423118.1_Missense_Mutation_p.R936H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	936	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGCGTGGCGCGGAGGCCACA	0.697000													3	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006359	9006359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9006359C>G	ENST00000397910.4	-	45	39862	c.39659G>C	c.(39658-39660)aGa>aCa	p.R13220T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13222	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGTCTGCAGCCAGA	0.512000													18	58					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47895239	47895239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:47895239G>A	ENST00000503935.2	+	9	1589	c.553G>A	c.(553-555)Gct>Act	p.A185T	KAT7_ENST00000259021.4_Missense_Mutation_p.A341T|KAT7_ENST00000510819.1_Missense_Mutation_p.A172T|KAT7_ENST00000509773.1_Missense_Mutation_p.A231T|KAT7_ENST00000454930.2_Missense_Mutation_p.A202T|KAT7_ENST00000435742.2_Missense_Mutation_p.A155T|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.A311T			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	341					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TAAAACAATTGCTTTTGGCCG	0.393000													12	52					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266465	50266465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:50266465C>G	ENST00000246801.3	-	1	122	c.40G>C	c.(40-42)Gag>Cag	p.E14Q		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	14							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATGGATCTCTTTGGACTGC	0.657000													32	61					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21224689	21224689	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:21224689G>T	ENST00000233242.1	-	29	13732	c.13605C>A	c.(13603-13605)atC>atA	p.I4535I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4535					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAACTCCGTGATGTATATCA	0.358000													61	95					2.2129e-31	2.56474e-31	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96706569	96706569	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:96706569T>A	ENST00000389672.5	+	3	884	c.846T>A	c.(844-846)ttT>ttA	p.F282L	EPHA6_ENST00000470610.2_Missense_Mutation_p.F282L|EPHA6_ENST00000542517.1_Missense_Mutation_p.F188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	187						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCTGGCTTTTCAAGACATTG	0.453000													52	472					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46900560	46900560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:46900560C>T	ENST00000378623.1	-	22	3276	c.3034G>A	c.(3034-3036)Ggc>Agc	p.G1012S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1012					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G1012C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGCTACAGCCGCCATTCTCC	0.567000													10	195					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033161	37033161	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:37033161C>G	ENST00000322716.5	-	1	1634	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	470						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCTCAAATTCTTTTTGGAGA	0.328000													3	21					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000452041.1_Silent_p.I28I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Silent_p.I65I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567000													22	149					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10412811	10412811	+	Silent	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:10412811G>C	ENST00000226207.5	-	15	1672	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	526	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTCTCGATGAGCTCGATGC	0.443000													42	45					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86344259	86344259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:86344259G>A	ENST00000254630.7	+	6	457	c.391G>A	c.(391-393)Gac>Aac	p.D131N	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Missense_Mutation_p.D131N	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	131						mitochondrion	protein binding	p.D131N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTTCAGAAGGACATAGCTGA	0.313000													23	36					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151274435	151274435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:151274435C>T	ENST00000368875.2	-	9	2250	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	PI4KB_ENST00000368873.1_Missense_Mutation_p.R545K|PI4KB_ENST00000271657.5_Missense_Mutation_p.R557K|PI4KB_ENST00000529142.1_Missense_Mutation_p.R213K|PI4KB_ENST00000368874.4_Missense_Mutation_p.R530K|PI4KB_ENST00000368872.1_Missense_Mutation_p.R530K	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	545					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCCCTCTCTGATCCGCCT	0.547000													11	50					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96880846	96880846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:96880846C>T	ENST00000394166.3	+	3	2629	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q261*|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q281*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q261*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	414	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TATGGCAATTCAATAAATAAA	0.378000													14	111					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158752	77158752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:77158752C>T	ENST00000372524.4	-	2	2182	c.1696G>A	c.(1696-1698)Gcg>Acg	p.A566T	ZNF503_ENST00000535216.1_Missense_Mutation_p.A566T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ATGGCGGCCGCGGCAGCGCTG	0.697000													3	11					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6749698	6749698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:6749698C>T	ENST00000230859.6	+	9	994	c.865C>T	c.(865-867)Cag>Tag	p.Q289*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	289					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAAAGTAACTCAGGAGGTGAT	0.488000													35	153					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760877	153760877	+	Missense_Mutation	SNP	C	C	T	rs137852325		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:153760877C>T	ENST00000393562.2	-	10	1665	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	G6PD_ENST00000369620.2_Missense_Mutation_p.E444K|G6PD_ENST00000393564.2_Missense_Mutation_p.E398K	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	398					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACACGGCCTCGTTGGGCTGC	0.607000													15	63					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295797	20295797	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:20295797G>C	ENST00000568211.1	+	1	190	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	OR4N2_ENST00000315947.1_Missense_Mutation_p.G64R			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTTTCTGGGCAACTTGGC	0.468000													132	616					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24868931	24868931	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:24868931G>A	ENST00000424834.2	+	12	3608	c.3135G>A	c.(3133-3135)ctG>ctA	p.L1045L	SPATA13_ENST00000343003.6_Silent_p.L364L|SPATA13_ENST00000382108.3_Silent_p.L1045L|SPATA13_ENST00000409126.1_Silent_p.L280L|SPATA13_ENST00000382095.4_Silent_p.L420L|SPATA13_ENST00000399949.2_Silent_p.L342L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	420					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCTGTCTGATCAACGAGC	0.488000													6	67					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571468	71571468	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:71571468G>T	ENST00000338482.5	+	3	1231	c.888G>T	c.(886-888)ttG>ttT	p.L296F	CHST4_ENST00000572450.1_Missense_Mutation_p.L296F|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.L296F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	296					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					2.27111e-07	2.45741e-07	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|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|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	11					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1222118	1222118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:1222118G>A	ENST00000382952.3	-	4	560	c.176C>T	c.(175-177)gCt>gTt	p.A59V	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70V	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAG	0.622000													4	59					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525602	248525602	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:248525602C>A	ENST00000366475.1	+	1	720	c.720C>A	c.(718-720)ctC>ctA	p.L240L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240					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)			TCATGCTCCTCATCCCTGTGG	0.478000													46	116					1.4374e-25	1.659e-25	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56581705	56581705	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:56581705T>C	ENST00000323456.5	-	13	1568	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	MTMR4_ENST00000579925.1_Missense_Mutation_p.K482E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	482	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTGCTTAAGCAACTGA	0.517000													10	96					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	33					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664039	237664039	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:237664039A>G	ENST00000366574.2	+	21	2549	c.2232A>G	c.(2230-2232)ccA>ccG	p.P744P	RYR2_ENST00000360064.6_Silent_p.P742P|RYR2_ENST00000542537.1_Silent_p.P728P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGCTCACCAAACCAACATC	0.413000													81	205					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479716	4479716	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:4479716G>A	ENST00000237837.1	-	3	694	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	183					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCGAGTCGTCCTCGGCGC	0.682000													11	47					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766113	27766113	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:27766113G>T	ENST00000451261.2	+	5	1500	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAAGAAAGTGGGACTGTATA	0.418000													10	8					2.17888e-05	2.30362e-05	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109392196	109392196	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:109392196G>C	ENST00000283195.6	+	24	8427	c.8301G>C	c.(8299-8301)caG>caC	p.Q2767H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2767					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATCTCAGACAGAAGAAA	0.343000													15	88					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23938239	23938239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:23938239G>T	ENST00000402377.3	-	2	259	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGAAGACCAGGTTTCTGTAG	0.353000													19	139					5.03518e-11	5.62397e-11	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133192492	133192492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:133192492C>T	ENST00000388996.4	-	4	1109	c.689G>A	c.(688-690)cGc>cAc	p.R230H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R230H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R110H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	230					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCAGGAAGCGCAGGCTTCG	0.587000													15	77					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157240172	157240172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:157240172G>A	ENST00000523094.1	-	5	567	c.362C>T	c.(361-363)gCc>gTc	p.A121V	CLINT1_ENST00000296951.5_Missense_Mutation_p.A121V|CLINT1_ENST00000530742.1_Missense_Mutation_p.A121V|CLINT1_ENST00000411809.2_Missense_Mutation_p.A139V|CLINT1_ENST00000523908.1_Missense_Mutation_p.A139V	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	139	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATCCTGGGCAAATTCAAC	0.413000													18	53					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818900	115818900	+	Missense_Mutation	SNP	T	T	G	rs144129779		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:115818900T>G	ENST00000374227.3	-	1	96	c.69A>C	c.(67-69)gaA>gaC	p.E23D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E23D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E23D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTGGTCGTTTCCGCACTTC	0.652000													16	134					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498000													32	113					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142937	41142937	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:41142937C>T	ENST00000380588.4	+	4	616	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	171	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGACCCGGCTCCCGGATATTT	0.502000													31	37					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357299	79357299	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:79357299G>A	ENST00000370742.3	-	14	1983	c.1920C>T	c.(1918-1920)caC>caT	p.H640H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	640					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCACTGATGCGTGCACAACAT	0.448000													20	29					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185774946	185774946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:185774946G>A	ENST00000306376.5	-	11	1373	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	ETV5_ENST00000537818.1_Missense_Mutation_p.T418I|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.T376I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	376					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCAAGAAGGGTGACCAGGAA	0.552000			T	"""TMPRSS2, SCL45A3"""	Prostate								34	127					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305438	48305438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:48305438C>T	ENST00000535759.1	-	4	1120	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	TPRX1_ENST00000322175.3_Missense_Mutation_p.G277D|TPRX1_ENST00000543508.1_Missense_Mutation_p.G267D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	277						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGCCTGGGCCTGGGATCTG	0.642000													10	19					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183891440	183891440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:183891440G>A	ENST00000304685.3	+	18	2655	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	RGL1_ENST00000360851.3_Missense_Mutation_p.E697K|RGL1_ENST00000539189.1_Missense_Mutation_p.E668K|RGL1_ENST00000367531.1_Missense_Mutation_p.E732K|RGL1_ENST00000536277.1_Missense_Mutation_p.E695K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	697	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGAGGAGTACGAGCTGGTGCA	0.572000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88405860	88405860	+	Missense_Mutation	SNP	G	G	A	rs114851602	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:88405860G>A	ENST00000419482.2	+	8	1083	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.R320Q	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R333Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AAATTATGCCGGGAGTGCCTG	0.522000													15	46					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670062	49670062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:49670062C>T	ENST00000561648.1	-	4	3054	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K	ZNF423_ENST00000567169.1_Missense_Mutation_p.E884K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E884K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATAAACTCCTCCTCGCTCTGC	0.592000													5	29					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920723	4920723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:4920723C>T	ENST00000433855.1	+	1	2382	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	KCNA6_ENST00000280684.3_Missense_Mutation_p.R506W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	506						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CGAGGCTAACCGGGAACGGAG	0.612000										HNSCC(72;0.22)			7	81					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202473	24202473	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:24202473A>T	ENST00000303531.7	+	16	1937	c.1785A>T	c.(1783-1785)aaA>aaT	p.K595N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K595N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	595	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTGATATCAAAGAGCATGCAT	0.443000													6	94					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805525	1805525	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:1805525C>T	ENST00000399161.2	-	23	3966	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	MYT1L_ENST00000428368.2_Silent_p.K1071K|MYT1L_ENST00000407844.1_Silent_p.K69K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1073					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATTTAGCTCCTTGATTTCTT	0.323000													30	102					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058461	53058461	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53058461G>A	ENST00000359798.4	+	5	2472	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAGTGTAACGACT	0.443000													11	230					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627337	148627337	+	Missense_Mutation	SNP	G	G	A	rs149793182	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:148627337G>A	ENST00000441248.1	+	3	1748	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40A_ENST00000450602.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000393985.3_Missense_Mutation_p.R54Q|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000422892.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000423540.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000434353.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000514208.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000359293.5_Missense_Mutation_p.R54Q|CXorf40A_ENST00000423421.1_Missense_Mutation_p.R54Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	54							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGCCTGGCGGGAGCTGCTG	0.592000													14	26					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	40					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817161	150817161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150817161G>A	ENST00000397238.2	+	8	1057	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	AGAP3_ENST00000463381.1_Missense_Mutation_p.E125K|AGAP3_ENST00000473312.1_Missense_Mutation_p.E353K|AGAP3_ENST00000335367.3_Missense_Mutation_p.E533K|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	317	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGCGCATCGAGACCATCGC	0.652000													31	17					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572647	31572647	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:31572647C>T	ENST00000379416.3	-	26	2922	c.2874G>A	c.(2872-2874)caG>caA	p.Q958Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	958					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTCAAGCTTCTGGTTGAAGT	0.507000													17	110					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41543691	41543691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:41543691G>A	ENST00000396942.1	-	36	4452	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	ANK1_ENST00000396945.1_Missense_Mutation_p.R1457C|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCTTCACGGATGACCCAG	0.522000													8	73					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143082405	143082405	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:143082405C>A	ENST00000316549.6	-	14	1733	c.1524_splice	c.e14-1	p.E509_splice		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	509					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATTTGCTTCCTGGGGAGAA	0.318000													14	117					9.31168e-06	9.92052e-06	1	1	0
ZNF616	90317	broad.mit.edu	37	19	52619089	52619089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52619089C>A	ENST00000600228.1	-	4	1589	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTACACCTTGCCACATTTATT	0.388000													13	148					0.0135373	0.0137356	1	1	0
ITGA2B	3674	broad.mit.edu	37	17	42466667	42466667	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:42466667C>G	ENST00000262407.5	-	1	206	c.175G>C	c.(175-177)Gac>Cac	p.D59H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D59H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	59					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCATGGCTGTCCTTGTGGAAG	0.587000													17	154					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394278	64394278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:64394278C>T	ENST00000262043.3	+	4	995	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H219Y|PHF3_ENST00000509330.1_Missense_Mutation_p.H219Y			Q92576	PHF3_HUMAN	PHD finger protein 3	219					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCTTCAAGTCATTCTTCAGT	0.393000													20	102					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66108786	66108786	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:66108786C>A	ENST00000359957.3	-	4	409	c.249G>T	c.(247-249)ctG>ctT	p.L83L	BRMS1_ENST00000425825.2_Silent_p.L83L	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	83					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GCAGCTGACTCAGTCGTTCCC	0.597000													13	46					1.5842e-08	1.74136e-08	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65271081	65271081	+	RNA	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:65271081C>T	ENST00000534336.1	+	0	5849					NR_002819.2																						AAATAATAAACTATTTTTATT	0.303000													7	56					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722606	201722606	+	Splice_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:201722606G>A	ENST00000434813.2	-	7	1127	c.791_splice	c.e7-1	p.R265_splice	CLK1_ENST00000321356.4_Splice_Site_p.R223_splice|CLK1_ENST00000409769.2_Splice_Site_p.R46_splice	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	223	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGACACAGCGGCTACAAACA	0.353000													19	193					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85456724	85456724	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:85456724G>A	ENST00000316356.4	-	4	909	c.345C>T	c.(343-345)ggC>ggT	p.G115G	SYTL2_ENST00000528231.1_Silent_p.G115G|SYTL2_ENST00000527523.1_Silent_p.G67G|SYTL2_ENST00000524452.1_Silent_p.G115G|SYTL2_ENST00000389960.4_Silent_p.G115G			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	115					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTACAACGCCAGCCAGCT	0.517000													25	102					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660592	57660592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:57660592G>A	ENST00000402412.1	-	19	2443	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P366S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P705S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P671S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P671S|R3HDM2_ENST00000546843.1_5'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	671	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCCAGGGGGTTGCAGAAAC	0.552000													5	19					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102677620	102677620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:102677620A>C	ENST00000259400.6	+	2	235	c.99A>C	c.(97-99)agA>agC	p.R33S	STX17_ENST00000534052.1_Missense_Mutation_p.R33S|RP11-60I3.4_ENST00000524512.1_RNA|STX17_ENST00000525640.1_Missense_Mutation_p.R33S	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	33					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGGTTAAGAAAGCACCAGA	0.343000													21	56					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011492	50011492	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:50011492G>A	ENST00000322246.4	-	2	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	46					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACTAAAGGTGATATGGTGCC	0.403000													16	51					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221227	161221227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:161221227G>A	ENST00000327928.4	+	4	931	c.931G>A	c.(931-933)Ggt>Agt	p.G311S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	311	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGGCCGAAGGGTGACATTGG	0.597000													20	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	56					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114499787	114499787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:114499787G>A	ENST00000369558.1	+	7	1866	c.1634G>A	c.(1633-1635)aGg>aAg	p.R545K	HIPK1_ENST00000340480.4_Missense_Mutation_p.R171K|HIPK1_ENST00000426820.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369559.4_Missense_Mutation_p.R545K|HIPK1_ENST00000369561.4_Missense_Mutation_p.R545K|HIPK1_ENST00000406344.1_Missense_Mutation_p.R151K|HIPK1_ENST00000369553.1_Missense_Mutation_p.R151K|HIPK1_ENST00000369554.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369555.2_Missense_Mutation_p.R545K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAAGCGGAGGGTTCACATG	0.388000													26	26					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50285363	50285363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:50285363C>T	ENST00000332853.3	-	4	558	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	179						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACAGCATACACATAGAGATCT	0.512000													10	27					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80333144	80333144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:80333144A>G	ENST00000313135.2	+	1	992	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	315						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCCTTCCTCTACACGCTGCTC	0.736000													5	4					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455848	5455848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:5455848C>G	ENST00000222033.4	+	1	423	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672000													16	87					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924449	89924449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:89924449C>G	ENST00000405460.2	+	8	1405	c.1309C>G	c.(1309-1311)Cgg>Ggg	p.R437G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	437				LTR -> VTP (in Ref. 2; AAL30811).	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGTTGACACGGAACAGCAC	0.423000													27	40					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437867	243437867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:243437867C>T	ENST00000366541.3	+	4	447	c.329C>T	c.(328-330)aCc>aTc	p.T110I	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110I|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110I	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGAGGAAACCAATATGCCT	0.299000													17	41					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243866	88243866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:88243866C>G	ENST00000328546.4	-	1	192	c.128G>C	c.(127-129)gGa>gCa	p.G43A	HSD17B13_ENST00000302219.6_Missense_Mutation_p.G43A|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	43						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATGCCCAGCTCCAGTAATGAG	0.423000													5	92					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593384	74593384	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:74593384C>G	ENST00000361874.3	-	23	3064	c.2747G>C	c.(2746-2748)cGg>cCg	p.R916P	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Missense_Mutation_p.R899P|DCTN1_ENST00000409438.1_Missense_Mutation_p.R782P|DCTN1_ENST00000409240.1_Missense_Mutation_p.R879P|DCTN1_ENST00000394003.3_Missense_Mutation_p.R909P|DCTN1_ENST00000409567.3_Missense_Mutation_p.R896P|DCTN1_ENST00000407639.2_Missense_Mutation_p.R782P	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	916					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTGGGGGGCCGCTCTGCATC	0.562000													28	87					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33592764	33592764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:33592764G>A	ENST00000299977.4	+	5	2681	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	845					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTGGACAGTGTCTGTCGATT	0.488000													13	88					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118425293	118425293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118425293C>G	ENST00000369210.3	-	3	154	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C10orf82_ENST00000588184.1_Missense_Mutation_p.D34H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	34										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGGTTCATGTCATCCTCCTTG	0.517000													15	50					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250371	140250371	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140250371G>A	ENST00000398640.2	+	1	1683	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGC	0.682000													33	108					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:17766855G>A	ENST00000428389.2	-	11	1383	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652000													3	4					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306666	14306666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:14306666C>G	ENST00000378053.3	-	2	1743	c.1487G>C	c.(1486-1488)tGt>tCt	p.C496S	FLRT3_ENST00000341420.4_Missense_Mutation_p.C496S|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	496	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGTCTCAATACAAACAGGAGT	0.448000													23	67					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850873	13850873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13850873G>A	ENST00000265104.4	-	31	5106	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1668	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCCCGAGTCATGATC	0.468000									Kartagener syndrome				27	87					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785327	24785327	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:24785327C>G	ENST00000396789.4	+	2	2195	c.470C>G	c.(469-471)aCa>aGa	p.T157R	LTB4R_ENST00000396782.2_Missense_Mutation_p.T157R|LTB4R_ENST00000345363.3_Missense_Mutation_p.T157R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCGTACCGCACAGTAGTGCCC	0.632000													68	41					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398000													10	56					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437866	243437866	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:243437866A>T	ENST00000366541.3	+	4	446	c.328A>T	c.(328-330)Acc>Tcc	p.T110S	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110S|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACATGAGGAAACCAATATGCC	0.294000													17	41					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016146	27016146	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:27016146G>A	ENST00000335756.4	+	4	622	c.422G>A	c.(421-423)tGa>tAa	p.*141*	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Silent_p.*115*	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	0					CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCGGCTGAGCTCCTGCA	0.557000													76	136					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34863073	34863073	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).				binding	p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512000													13	60					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416847	105416847	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:105416847G>A	ENST00000333244.5	-	7	5060	c.4941C>T	c.(4939-4941)gcC>gcT	p.A1647A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1647						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGCCTTGTCGGCCAGGGACA	0.607000													143	128					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875236	75875236	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:75875236A>G	ENST00000322507.8	-	14	3279	c.2970T>C	c.(2968-2970)gaT>gaC	p.D990D	COL12A1_ENST00000416123.2_Silent_p.D990D|COL12A1_ENST00000483888.2_Silent_p.D990D|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	990	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTGTGGCATCTCCAGTCA	0.423000													12	120					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854255	40854255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:40854255C>G	ENST00000254691.5	+	3	3020	c.2821C>G	c.(2821-2823)Cag>Gag	p.Q941E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	941					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAAGAGCTCTCAGTTCAAATC	0.493000													29	206					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130768	45130768	+	Missense_Mutation	SNP	G	G	A	rs141823361	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:45130768G>A	ENST00000457685.2	-	6	2419	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	ZNF334_ENST00000593880.1_Missense_Mutation_p.P427S|ZNF334_ENST00000347606.4_Missense_Mutation_p.P404S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438000													25	129					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737360	13737360	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:13737360C>A	ENST00000265104.4	-	66	11560		c.e66+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAACTCACCAGGTCTGTA	0.403000									Kartagener syndrome				25	90					1.55469e-16	1.77955e-16	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804524	22804524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr18:22804524G>A	ENST00000361524.3	-	4	3506	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q900*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q1120*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1120					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCATTCTGGCCCAAGCCT	0.552000			T	PAX5	ALL								6	38					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2883674	2883674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:2883674G>A	ENST00000355842.3	+	4	1108	c.245G>A	c.(244-246)gGg>gAg	p.G82E	ADD1_ENST00000398125.1_Missense_Mutation_p.G82E|ADD1_ENST00000513328.2_Missense_Mutation_p.G82E|ADD1_ENST00000398129.1_Missense_Mutation_p.G82E|ADD1_ENST00000446856.1_Missense_Mutation_p.G82E|ADD1_ENST00000264758.7_Missense_Mutation_p.G82E|ADD1_ENST00000398123.2_Missense_Mutation_p.G82E|ADD1_ENST00000503455.2_Missense_Mutation_p.G82E			P35611	ADDA_HUMAN	adducin 1 (alpha)	82					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTAAGAAGGGGAAGAACCCC	0.408000													14	84					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783161	164783161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164783161C>T	ENST00000264382.3	-	7	757	c.695G>A	c.(694-696)cGt>cAt	p.R232H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	232	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTGGAAGACGGGTTGAGAT	0.353000										HNSCC(35;0.089)			8	63					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563136	45563136	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr21:45563136G>C	ENST00000291577.6	+	6	664	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.E160Q	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	191						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CAGAGGCGTCGAGGTGACTGT	0.622000													8	17					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90459426	90459426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:90459426C>T	ENST00000369393.3	-	25	3566	c.3451G>A	c.(3451-3453)Gat>Aat	p.D1151N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1151N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1151					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAATTCATCTAAAATAATC	0.353000													34	51					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103029735	103029735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:103029735C>T	ENST00000375735.2	+	28	4501	c.4357C>T	c.(4357-4359)Cac>Tac	p.H1453Y	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1453Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1453	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTCAGTCTCACCTGAAGAA	0.363000													3	14					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537796	37537796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:37537796C>G	ENST00000432825.2	-	3	778	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	244						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCACAGTTTTCCAGGACACAC	0.498000													6	49					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20843396	20843396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:20843396C>T	ENST00000328879.4	-	2	259	c.103G>A	c.(103-105)Gct>Act	p.A35T	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	35					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGAGCAGAGCCTGGGAGTGC	0.627000													17	41					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609450	81609450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:81609450G>A	ENST00000541158.2	+	11	1370	c.1048G>A	c.(1048-1050)Gct>Act	p.A350T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A350T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	350					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCATAACAACGCTCATTATTA	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						16	78					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770328	53770328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53770328C>A	ENST00000311170.4	-	1	644	c.591G>T	c.(589-591)tgG>tgT	p.W197C		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	197					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGCTGACCCAGAGCATGA	0.537000										HNSCC(26;0.072)			12	38					0.000308642	0.000319007	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50946288	50946288	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:50946288C>T	ENST00000374103.4	-	18	2425	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	OGDHL_ENST00000432695.1_Silent_p.A571A|OGDHL_ENST00000419399.1_Silent_p.A723A|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	780					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617000													9	27					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318957	71318957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:71318957G>T	ENST00000338099.5	-	3	1203	c.867C>A	c.(865-867)taC>taA	p.Y289*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Y289*			Q8IYT2	FTSJ1_HUMAN		289						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTTTAGCAGGTACATCAAGT	0.418000													9	87					0.000274275	0.000284548	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32630185	32630185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:32630185G>A	ENST00000242310.4	-	1	5482	c.5393C>T	c.(5392-5394)tCt>tTt	p.S1798F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1798					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCACATCAGAGTCACTTCC	0.453000													14	82					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958202	176958202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:176958202G>A	ENST00000392539.3	+	1	584	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	195					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTCTACCAGGGCTATACGAGC	0.622000			T	NUP98	AML*								11	71					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145809656	145809656	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:145809656G>T	ENST00000282903.5	-	8	987	c.810C>A	c.(808-810)ccC>ccA	p.P270P	PLOD2_ENST00000494950.1_Silent_p.P215P|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Silent_p.P270P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	270					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCATGAATTGGGTACATAGT	0.373000													6	70					0.00116845	0.00119432	1	1	0
BMS1	9790	broad.mit.edu	37	10	43285840	43285840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:43285840G>A	ENST00000374518.4	+	5	580	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	173					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTGTCAAGTACATGGCTT	0.378000													18	66					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439149	75439149	+	Missense_Mutation	SNP	C	C	T	rs144185928		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:75439149C>T	ENST00000526712.1	+	3	1137	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R204W			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	204					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCTGTTACTGCGGAACCGAAA	0.562000													10	30					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880679	37880679	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:37880679C>T	ENST00000436120.2	+	5	1835	c.1728C>T	c.(1726-1728)caC>caT	p.H576H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAATTCACGCTGGAGAAA	0.388000													15	63					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	381402	381402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:381402A>T	ENST00000276326.5	+	3	315	c.196A>T	c.(196-198)Aaa>Taa	p.K66*	FBXO25_ENST00000350302.3_Nonsense_Mutation_p.K66*|FBXO25_ENST00000382824.1_Missense_Mutation_p.K15N|FBXO25_ENST00000352684.2_Missense_Mutation_p.K15N	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	66	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGCATCGAAAAAAAGGAAAAA	0.249000													10	54					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132435688	132435688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:132435688T>C	ENST00000326682.8	-	4	812	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NPHP3_ENST00000337331.5_Missense_Mutation_p.M246V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	246					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGGATCATGCTTCCTATG	0.458000													24	105					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808991	18808991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:18808991G>A	ENST00000400664.1	+	1	1568	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	506						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGACTCCGGCGGCCTCTG	0.697000													11	54					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119642255	119642255	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:119642255G>C	ENST00000264235.8	-	4	1424	c.442C>G	c.(442-444)Cga>Gga	p.R148G	GSK3B_ENST00000316626.5_Missense_Mutation_p.R148G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	148	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGTTTGGCTCGACTATAGTGT	0.358000													3	25					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034658	58034658	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:58034658G>T	ENST00000395079.2	-	1	1074	c.673C>A	c.(673-675)Cgc>Agc	p.R225S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCCGGTGGCGGCCAGCAGCC	0.587000													14	43					2.4624e-09	2.72834e-09	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204228389	204228389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:204228389C>T	ENST00000272203.3	-	8	1320	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R355Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	335	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCTCACCTCCGAAGGTCTTC	0.617000													6	33					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2755277	2755277	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:2755277A>T	ENST00000397835.4	+	3	468	c.468A>T	c.(466-468)agA>agT	p.R156S	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	42						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCCGACTGAGAAggccggggc	0.776000													10	24					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:78516145G>A	ENST00000397909.2	+	16	4348	c.4175G>A	c.(4174-4176)gGc>gAc	p.G1392D	NAV3_ENST00000536525.2_Missense_Mutation_p.G1392D|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.G1392D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGACCACAGGCACTCACGAG	0.547000										HNSCC(70;0.22)			26	101					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789513	73789513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:73789513G>A	ENST00000334126.7	-	23	4476	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1417L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1417				P -> S (in Ref. 1; BAE17137).		centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAATGGATGGGCAGCCACAG	0.493000													26	52					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581256	24581256	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:24581256G>T	ENST00000358321.3	+	6	1238	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	326	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GACTCCGGCCGCTTCTTCGTG	0.677000													6	15					0.0215528	0.0217887	1	1	0
DNM3	26052	broad.mit.edu	37	1	172356476	172356476	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:172356476C>T	ENST00000358155.4	+	19	2438	c.2262C>T	c.(2260-2262)gaC>gaT	p.D754D	DNM3_ENST00000367731.1_Silent_p.D750D|DNM3_ENST00000355305.5_Silent_p.D760D	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	760					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTGGATGACTCCTGGATAC	0.592000													5	25					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71103643	71103643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:71103643C>T	ENST00000448642.2	+	7	618	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R30C|HK1_ENST00000359426.6_Missense_Mutation_p.R42C|HK1_ENST00000404387.2_Missense_Mutation_p.R46C|HK1_ENST00000298649.3_Missense_Mutation_p.R41C			P19367	HXK1_HUMAN	hexokinase 1	42	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TATCATGACTCGCTTCAGGAA	0.498000													17	121					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517599	63517599	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:63517599C>T	ENST00000377819.5	+	4	2821	c.2667C>T	c.(2665-2667)gtC>gtT	p.V889V	RTN3_ENST00000537981.1_Silent_p.V93V|RTN3_ENST00000341307.2_Silent_p.V93V|RTN3_ENST00000540798.1_Silent_p.V777V|RTN3_ENST00000356000.3_Silent_p.V112V|RTN3_ENST00000354497.4_Silent_p.V93V|RTN3_ENST00000339997.4_Silent_p.V870V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	889	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTCTCTCTGTCACCATCAGCT	0.473000													4	16					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124540208	124540208	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:124540208G>A	ENST00000296181.4	-	6	1190	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	298	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGTGGCACTGGCCATCGTGTG	0.572000													4	62					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109660402	109660402	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:109660402A>G	ENST00000338432.7	+	25	3774	c.3655A>G	c.(3655-3657)Aaa>Gaa	p.K1219E	ACACB_ENST00000377848.3_Missense_Mutation_p.K1219E|ACACB_ENST00000377854.5_Missense_Mutation_p.K1149E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1219					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGAGCACTGCAAAGTGGCCCT	0.622000													5	34					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260835	96260835	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:96260835A>G	ENST00000272395.2	+	3	585	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	150						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTATGGAAAAAGATTCAAGAA	0.403000													24	31					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118396336	118396336	+	RNA	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:118396336T>C	ENST00000537242.1	+	0	1003				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCCCAAAATGGGGCACTAT	0.403000													3	10					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185142	56185142	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:56185142G>A	ENST00000312253.1	-	1	566	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTGTGTCTGAGCAGGACAGAG	0.428000													14	61					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970331	111970331	+	Silent	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:111970331G>C	ENST00000450657.1	+	7	877	c.861G>C	c.(859-861)ctG>ctC	p.L287L	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000361822.3_Intron			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	0						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAATCTTTCTGAGGACCAACT	0.303000													10	27					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41276072	41276072	+	Silent	SNP	G	G	A	rs80356827		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:41276072G>A	ENST00000357654.3	-	2	160	c.42C>T	c.(40-42)gtC>gtT	p.V14V	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Silent_p.V14V|BRCA1_ENST00000351666.3_Silent_p.V14V|BRCA1_ENST00000346315.3_Silent_p.V14V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Silent_p.V14V|BRCA1_ENST00000468300.1_Silent_p.V14V|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000354071.3_Silent_p.V14V|BRCA1_ENST00000352993.3_Silent_p.V14V|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	14					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGCATTAATGACATTTTGTA	0.318000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	60					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012395	29012395	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:29012395C>T	ENST00000377175.1	-	1	622	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGCTATCTTGACCAGAG	0.403000													28	113					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461296	5461296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:5461296G>A	ENST00000296564.7	+	13	2071	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	617										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGACTCAGGTGATGGAATGGA	0.418000													46	85					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68934362	68934362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:68934362G>A	ENST00000288368.4	+	4	705	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	143	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R143Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACAATCCGGACATTTCTT	0.328000													19	25					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76205698	76205698	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:76205698G>A	ENST00000543667.1	+	0	253				ACADM_ENST00000370841.4_Missense_Mutation_p.D168N|ACADM_ENST00000370834.5_Missense_Mutation_p.D201N|ACADM_ENST00000541113.1_Missense_Mutation_p.D132N|ACADM_ENST00000420607.2_Missense_Mutation_p.D172N			P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGCAGGCTCTGATGTAGCTGG	0.338000													18	11					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319810	132319810	+	Missense_Mutation	SNP	G	G	T	rs141386637	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:132319810G>T	ENST00000249887.2	+	2	665	c.569G>T	c.(568-570)cGc>cTc	p.R190L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		ATTTTCCCCCGCTACCTAGGA	0.423000													6	64					1.15088e-07	1.25017e-07	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22171649	22171649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:22171649G>T	ENST00000397126.4	-	2	214	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZNF208_ENST00000599916.1_Missense_Mutation_p.D22E|ZNF208_ENST00000601773.1_Missense_Mutation_p.D22E|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTGTGCAGTGTCCAGGCATT	0.398000													37	189					2.20474e-14	2.4927e-14	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73678290	73678290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:73678290G>C	ENST00000264448.6	+	8	4744	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1503Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1545Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1545	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATACCTGAAGAGGCTCTCAG	0.473000													38	201					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16256934	16256934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:16256934C>T	ENST00000205557.7	-	24	3451	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1141	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCCTGGGTTCGGAATGCCCG	0.597000													18	75					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447464	226447464	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:226447464G>T	ENST00000272907.6	+	4	1744	c.1331G>T	c.(1330-1332)aGg>aTg	p.R444M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	444	Pro-rich.																AGCATGGGGAGGTCCCTGACT	0.637000													9	24					7.48243e-07	8.03346e-07	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178916836	178916836	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:178916836C>G	ENST00000263967.3	+	2	380	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGTGTTACTCAAGAAGCAGA	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			38	178					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526576	23526576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:23526576C>A	ENST00000296682.3	+	11	1561	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAAAGGTCCAAACTCTTG	0.468000										HNSCC(3;0.000094)			6	47					0.217242	0.218029	1	1	0
ZNF282	8427	broad.mit.edu	37	7	148895756	148895756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:148895756G>A	ENST00000262085.3	+	2	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637000													13	81					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170405	121170405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:121170405C>G	ENST00000297848.3	+	3	395	c.125C>G	c.(124-126)tCt>tGt	p.S42C	COL14A1_ENST00000537875.1_Missense_Mutation_p.S42C|COL14A1_ENST00000309791.4_Missense_Mutation_p.S42C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S42C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	42	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343000													12	72					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751321	19751321	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:19751321G>C	ENST00000400113.3	-	4	906	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGCCAGGGGGAAGTGGATG	0.617000													40	113					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56130445	56130445	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:56130445C>G	ENST00000275603.4	+	13	1739	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	CCT6A_ENST00000335503.3_Missense_Mutation_p.S462C|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.S476C	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	507					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTTCACTCCTGGTAAGTT	0.378000													18	58					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612629	158612629	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:158612629G>T	ENST00000368148.3	-	32	4760	c.4580C>A	c.(4579-4581)tCc>tAc	p.S1527Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1527Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1527					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1527Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTTGTAGGATTCATCACA	0.443000													27	98					1.08312e-15	1.23467e-15	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16528779	16528779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:16528779C>T	ENST00000602009.1	-	5	1520	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPS15L1_ENST00000597937.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000248070.6_Missense_Mutation_p.E363K|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E363K			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	363	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGCCTCTCTCCGAAGGCGGG	0.592000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	69					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028206	170028206	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:170028206C>T	ENST00000284637.9	-	11	2631	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	764						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGGCCACCTCCTGGTGGCAGT	0.672000													13	31					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590194	140590194	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:140590194G>T	ENST00000239450.2	+	1	1904	c.1715G>T	c.(1714-1716)tGc>tTc	p.C572F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.C235F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		572	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCCCTGCACCGAGCTG	0.701000													40	59					2.59497e-14	2.92198e-14	1	1	0
FDXR	2232	broad.mit.edu	37	17	72860034	72860034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72860034C>A	ENST00000455107.2	-	10	1522	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V	FDXR_ENST00000582944.1_Silent_p.R378R|FDXR_ENST00000544854.1_Silent_p.R334R|FDXR_ENST00000293195.5_Silent_p.R386R|FDXR_ENST00000413947.2_Silent_p.R417R|FDXR_ENST00000583917.1_Silent_p.R358R|FDXR_ENST00000420580.2_Silent_p.R346R|FDXR_ENST00000581530.1_Silent_p.R392R|FDXR_ENST00000442102.2_Silent_p.R429R			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CATCCATAACCCGGCCCTCCA	0.587000													48	147					1.30409e-13	1.46248e-13	1	1	0
FKRP	79147	broad.mit.edu	37	19	47258781	47258781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:47258781C>T	ENST00000318584.5	+	4	371	c.74C>T	c.(73-75)tCg>tTg	p.S25L	FKRP_ENST00000391909.3_Missense_Mutation_p.S25L|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	25						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTCTATGTCTCGTGGCTGCAG	0.701000													4	22					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228545	77228545	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:77228545G>T	ENST00000248248.3	+	4	1139	c.789G>T	c.(787-789)gcG>gcT	p.A263A	MON1B_ENST00000439557.2_Silent_p.A154A|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Silent_p.A117A	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	263							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACTAGGTGCGCTCCTCCGAC	0.657000													9	37					5.4927e-09	6.06167e-09	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108110642	108110642	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:108110642C>G	ENST00000374720.3	+	5	657	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.S137*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.S137*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	137						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAACAGGTTCAGCCCTATGT	0.353000													15	61					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:72923807C>A	ENST00000331427.4	+	5	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000580223.1_Missense_Mutation_p.A186E	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral to membrane		p.A186V(1)		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)					ATCTGGATGGCGGCCGTGGTG	0.577000													19	46					8.34094e-07	8.92061e-07	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1222119	1222119	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:1222119C>A	ENST00000382952.3	-	4	559	c.175G>T	c.(175-177)Gct>Tct	p.A59S	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70S	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCCACAGCCTCGTTCAGG	0.617000													4	59					0.000602214	0.000620124	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671406	151671406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:151671406C>T	ENST00000402676.2	+	4	2120	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	AKAP12_ENST00000354675.6_Missense_Mutation_p.S529L|AKAP12_ENST00000253332.1_Missense_Mutation_p.S627L|AKAP12_ENST00000359755.5_Missense_Mutation_p.S522L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	627	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGACGGCCTTCGGAAAGTGAT	0.488000													6	32					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363306	21363306	+	RNA	SNP	G	G	A	rs2075274	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:21363306G>A	ENST00000452284.1	+	0	973				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GATGACCAGGGCGTAGGTGGC	0.582000													5	92					0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7754154	7754154	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:7754154C>A	ENST00000346664.5	-	11	1103	c.891G>T	c.(889-891)gcG>gcT	p.A297A	FCER2_ENST00000360067.4_Silent_p.A296A|FCER2_ENST00000597921.1_Silent_p.A297A	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	297					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCATGGACTCCGCGGAACCTT	0.677000													7	23					0.000157383	0.000163892	1	1	0
BANK1	55024	broad.mit.edu	37	4	102984276	102984276	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:102984276A>G	ENST00000504592.1	+	17	2566	c.2148A>G	c.(2146-2148)ccA>ccG	p.P716P	BANK1_ENST00000444316.2_Silent_p.P701P|BANK1_ENST00000322953.4_Silent_p.P731P|BANK1_ENST00000508653.1_Silent_p.P598P|BANK1_ENST00000428908.1_Silent_p.P598P			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	731					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGAAAAGGCCAGAAGAAGAAA	0.358000													6	47					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138093	31138093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:31138093C>G	ENST00000538351.1	-	7	1848	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	ZNF438_ENST00000452305.1_Missense_Mutation_p.R404T|ZNF438_ENST00000442986.1_Missense_Mutation_p.R414T|ZNF438_ENST00000413025.1_Missense_Mutation_p.R414T|ZNF438_ENST00000361310.3_Missense_Mutation_p.R414T|ZNF438_ENST00000444692.2_Missense_Mutation_p.R404T|ZNF438_ENST00000436087.2_Missense_Mutation_p.R414T|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000331737.6_Missense_Mutation_p.R404T	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTACTCTTTCTTTACC	0.378000													8	32					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150265	37150265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:37150265G>C	ENST00000262879.6	+	10	1827	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E515Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E515Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E293Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	515					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGAAGAGCTGAGGCTTGTGG	0.413000													26	101					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92491671	92491671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:92491671G>A	ENST00000267622.4	-	3	668	c.295C>T	c.(295-297)Caa>Taa	p.Q99*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	99					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTTGAAGTTGATTTCGGTAA	0.308000			T	PDGFRB	AML								12	20					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504962	125504962	+	Splice_Site	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:125504962G>T	ENST00000431078.1	+	14	2595	c.2231_splice	c.e14+1	p.W744_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	744	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGATGAATGGTAATGAGAA	0.458000													29	82					1.99505e-19	2.29307e-19	1	1	0
FAM98B	283742	broad.mit.edu	37	15	38773502	38773502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:38773502G>T	ENST00000397609.2	+	7	774	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	FAM98B_ENST00000491535.1_Missense_Mutation_p.D247Y	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	247						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGTAAAAACAGATGATATAGC	0.328000													9	44					7.48243e-07	8.03346e-07	1	1	0
OR13A1	79290	broad.mit.edu	37	10	45799763	45799763	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:45799763C>T	ENST00000553795.1	-	4	416	c.108G>A	c.(106-108)tcG>tcA	p.S36S	OR13A1_ENST00000536058.1_Silent_p.S36S|OR13A1_ENST00000374401.2_Silent_p.S36S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTGGGTGCTCCGAAAAGCCCT	0.527000													12	33					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20905254	20905254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:20905254G>A	ENST00000266509.2	+	15	2299	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLCO1C1_ENST00000381552.1_Silent_p.G678G|SLCO1C1_ENST00000545604.1_Silent_p.G678G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G595E|SLCO1C1_ENST00000545102.1_Silent_p.G560G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	644					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATATATCTGGGACTAACTGTG	0.303000													10	34					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59407110	59407110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:59407110G>C	ENST00000301645.3	-	4	1131	c.994C>G	c.(994-996)Cct>Gct	p.P332A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	332					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAACAAATAGGATTGCCTTCC	0.373000									Neonatal Giant Cell Hepatitis				32	43					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526577	23526577	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:23526577C>A	ENST00000296682.3	+	11	1562	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGAAAGGTCCAAACTCTTGA	0.463000										HNSCC(3;0.000094)			6	46					0.217242	0.218029	1	1	0
PRTG	283659	broad.mit.edu	37	15	55933315	55933315	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr15:55933315G>A	ENST00000389286.4	-	12	2180	c.2133C>T	c.(2131-2133)tgC>tgT	p.C711C		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	711					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTACACACGCATCCTGGAG	0.448000													4	33					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23179757	23179757	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:23179757T>G	ENST00000389131.3	-	7	1557	c.1188A>C	c.(1186-1188)acA>acC	p.T396T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	396	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTCATTGCCTGTGCACTGGA	0.517000													28	41					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13545814	13545814	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:13545814G>A	ENST00000382438.5	-	1	860	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	75					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCTGGTACCGGCAGGAGACG	0.731000													6	9					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945504	53945504	+	RNA	SNP	C	C	T	rs12983857	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:53945504C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGGTGGCTCGTAAGTTGGT	0.483000													5	59					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82832967	82832967	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:82832967A>T	ENST00000265077.3	+	8	4710	c.4145A>T	c.(4144-4146)gAc>gTc	p.D1382V	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D395V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGAAATAGACCTATACCAC	0.383000													12	41					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70645045	70645045	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:70645045C>A	ENST00000542342.2	-	9	935	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.A276S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	283					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCACCACGGCAAAGGCACCA	0.622000													11	18					1.61879e-10	1.80082e-10	1	1	0
SKIL	6498	broad.mit.edu	37	3	170099035	170099035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:170099035G>C	ENST00000458537.3	+	2	1811	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	SKIL_ENST00000426052.2_Missense_Mutation_p.D348H|SKIL_ENST00000259119.4_Missense_Mutation_p.D368H|SKIL_ENST00000413427.2_Missense_Mutation_p.D368H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	368					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTGCAGACAGATGCACCATC	0.403000													14	177					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106638773	106638773	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:106638773G>A	ENST00000515279.1	+	2	223	c.3G>A	c.(1-3)atG>atA	p.M1I	GSTCD_ENST00000394730.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000394728.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Start_Codon_SNP_p.M1I|GSTCD_ENST00000507281.1_Start_Codon_SNP_p.M1I			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	1						cytoplasm	rRNA methyltransferase activity	p.M1I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAAGAAAATGAAAGCCATAA	0.313000													8	35					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588430	247588430	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:247588430T>G	ENST00000366497.2	+	4	2465	c.1685T>G	c.(1684-1686)cTg>cGg	p.L562R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L562R|NLRP3_ENST00000391828.3_Missense_Mutation_p.L562R|NLRP3_ENST00000336119.3_Missense_Mutation_p.L562R|NLRP3_ENST00000366496.2_Missense_Mutation_p.L562R|NLRP3_ENST00000348069.2_Missense_Mutation_p.L562R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	562					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAGTCCTTCTGGAAAACTAT	0.478000													9	48					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283935	101283935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:101283935C>T	ENST00000309922.6	+	2	464	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GTGGAGATTGCTTGGCAGAGA	0.368000													16	225					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405241	139405241	+	Silent	SNP	G	G	A	rs115235667	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:139405241G>A	ENST00000277541.6	-	17	2679	c.2604C>T	c.(2602-2604)gtC>gtT	p.V868V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	868					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGATGTCGACCTCACAGG	0.706000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	17					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529255	13529255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr12:13529255C>T	ENST00000318426.2	-	2	302	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.D29N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D29N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D29N					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		catgaagtgtcttcatcagga	0.478000													12	28					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164773033	164773033	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr3:164773033T>G	ENST00000264382.3	-	13	1523	c.1461A>C	c.(1459-1461)gcA>gcC	p.A487A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	487	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCATTCATTTGCCCACCAAT	0.343000										HNSCC(35;0.089)			65	77					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177016735	177016735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:177016735C>T	ENST00000306324.3	+	1	786	c.374C>T	c.(373-375)aCg>aTg	p.T125M	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCTCCGGGACGGCACTCAAG	0.682000													5	28					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090886	31090886	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:31090886T>G	ENST00000394979.2	+	1	3664	c.3241T>G	c.(3241-3243)Tgc>Ggc	p.C1081G	ZNF646_ENST00000300850.5_Missense_Mutation_p.C1081G			O15015	ZN646_HUMAN	zinc finger protein 646	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGACTTTCTCTGCCCTGTCTG	0.627000													38	133					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385808	79385808	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:79385808A>T	ENST00000393878.1	-	2	418	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.F55Y|REG3A_ENST00000409839.3_Missense_Mutation_p.F55Y	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	55	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGGTGACAAAAACAAGGCATA	0.552000													23	42					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687000													3	15					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123914854	123914854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:123914854C>T	ENST00000373855.1	+	26	4315	c.4055C>T	c.(4054-4056)tCg>tTg	p.S1352L	CNTRL_ENST00000373847.1_Missense_Mutation_p.S800L|CNTRL_ENST00000373850.1_Missense_Mutation_p.S800L|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1352L|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1352					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGCGGCAGTCGGAGAAAGAA	0.383000													52	41					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614794	135614794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:135614794C>A	ENST00000520727.1	-	7	1431	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E328*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E378*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E378*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E390*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E378*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGCAGAGCTCGTCCAAGGCC	0.557000													7	99					8.12818e-05	8.49625e-05	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61011420	61011420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:61011420G>T	ENST00000373867.3	-	14	1762	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	FAM13C_ENST00000468840.2_Missense_Mutation_p.H434N|FAM13C_ENST00000435852.2_Missense_Mutation_p.H517N|FAM13C_ENST00000373868.2_Missense_Mutation_p.H517N|FAM13C_ENST00000442566.3_Missense_Mutation_p.H538N|FAM13C_ENST00000419214.2_Missense_Mutation_p.H419N|FAM13C_ENST00000277705.6_Missense_Mutation_p.H537N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	517										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTCGGAGATGGTCAAGAAGT	0.403000													9	96					2.17888e-05	2.30362e-05	1	1	0
ZMYM4	9202	broad.mit.edu	37	1	35881288	35881288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:35881288C>T	ENST00000314607.6	+	28	4362	c.4282C>T	c.(4282-4284)Cct>Tct	p.P1428S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P1339S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1428					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTTCCCACCTTTACAGAA	0.428000													21	34					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844440	47844440	+	Silent	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:47844440C>G	ENST00000595464.1	+	2	602	c.384C>G	c.(382-384)ctC>ctG	p.L128L	C5AR2_ENST00000257267.2_Silent_p.L128L|C5AR2_ENST00000600626.1_Silent_p.L128L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		TGGCAGCTCTCAGTGCCGACC	0.682000													28	103					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065156	9065156	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:9065156T>C	ENST00000397910.4	-	3	22493	c.22290A>G	c.(22288-22290)caA>caG	p.Q7430Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7432	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTTCACTTGGCCTGGTG	0.488000													18	44					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811751	31811751	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:31811751C>A	ENST00000375454.3	+	2	472	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	BPIFA3_ENST00000375452.3_Missense_Mutation_p.Q88K|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	88	Poly-Gln.					extracellular region	lipid binding										GAAACACCAGCAGCAGCAAGA	0.567000													22	26					2.39556e-15	2.71955e-15	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139696689	139696689	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:139696689G>A	ENST00000303045.6	-	39	3437	c.2991C>T	c.(2989-2991)ctC>ctT	p.L997L	COL22A1_ENST00000435777.1_Silent_p.L997L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	997	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGTCCAGGGAGTCCAGGTG	0.493000										HNSCC(7;0.00092)			22	166					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751319	151751319	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:151751319G>C	ENST00000368822.1	-	6	1358	c.725C>G	c.(724-726)tCt>tGt	p.S242C	TDRKH_ENST00000368823.1_Missense_Mutation_p.S238C|TDRKH_ENST00000368824.3_Missense_Mutation_p.S242C|TDRKH_ENST00000368825.3_Missense_Mutation_p.S197C|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.S242C|TDRKH_ENST00000440583.2_Missense_Mutation_p.S18C|TDRKH_ENST00000368827.6_Missense_Mutation_p.S242C			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	242							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCTAGAACTGGTGTT	0.542000													17	100					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134074	22134074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:22134074C>T	ENST00000408935.1	+	1	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATCTATACTCGGCCAGACAC	0.512000													36	39					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676773	33676773	+	RNA	SNP	G	G	C	rs112143506	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:33676773G>C	ENST00000532280.1	-	0	724					NR_023917.1																						CTCAGCCGCTGCTTGGCTCTG	0.642000													3	15					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431034	37431034	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr10:37431034T>G	ENST00000374660.1	+	7	1140	c.1041T>G	c.(1039-1041)tcT>tcG	p.S347S	ANKRD30A_ENST00000602533.1_Silent_p.S347S|ANKRD30A_ENST00000361713.1_Silent_p.S347S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAACATCTGAGAAATTTA	0.433000													21	79					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33247377	33247377	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:33247377G>C	ENST00000315596.10	+	8	916	c.730G>C	c.(730-732)Ggg>Cgg	p.G244R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	244					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTGATGCTTGGGAAAACATC	0.353000													18	55					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885489	60885489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr20:60885489C>G	ENST00000252999.3	-	76	10652	c.10586G>C	c.(10585-10587)gGa>gCa	p.G3529A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3529	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGATAACTCCCCCGCTGCC	0.692000													6	40					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28959121	28959121	+	Missense_Mutation	SNP	C	C	T	rs137937570		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr13:28959121C>T	ENST00000282397.4	-	14	2268	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	FLT1_ENST00000541932.1_Missense_Mutation_p.A673T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	673	Ig-like C2-type 7.				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)	CTGCTGATGGCCACTGTGTGA	0.448000													26	73					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496940	95496940	+	Silent	SNP	G	G	A	rs115743950	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr4:95496940G>A	ENST00000317968.4	+	5	601	c.465G>A	c.(463-465)gcG>gcA	p.A155A	PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000542407.1_Silent_p.A33A	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	155					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	p.A155A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CAGCCCATGCGACCACCTCAT	0.552000													8	172					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175082	57175082	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:57175082C>T	ENST00000537055.2	-	2	1716	c.1485G>A	c.(1483-1485)acG>acA	p.T495T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTCTGCATGCGTCCTCTGGT	0.637000													64	126					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165848793	165848793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:165848793G>T	ENST00000366882.1	-	7	593	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	PDE10A_ENST00000539869.2_Missense_Mutation_p.Q157K|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q147K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	147	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGTGCCCTGAGTGATGGGC	0.483000													8	47					0.27861	0.27861	1	1	0
RGS21	431704	broad.mit.edu	37	1	192321331	192321331	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:192321331T>C	ENST00000417209.2	+	4	417	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	81	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTGAAGCTGATGCACCTAAAG	0.378000													21	19					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10608831	10608831	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:10608831G>A	ENST00000379774.4	+	2	679	c.588G>A	c.(586-588)ctG>ctA	p.L196L	ADPRM_ENST00000527582.2_Silent_p.L196L	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.L196L(1)|p.N197fs*1(1)									ATACGGAACTGAATAGTCCTC	0.383000													21	29					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869650	52869650	+	Missense_Mutation	SNP	C	C	T	rs149251185		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr19:52869650C>T	ENST00000601151.1	+	5	1342	c.890C>T	c.(889-891)gCg>gTg	p.A297V	ZNF610_ENST00000327920.8_Missense_Mutation_p.A340V|ZNF610_ENST00000403906.3_Missense_Mutation_p.A340V|ZNF610_ENST00000321287.8_Missense_Mutation_p.A340V	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCACACGGCGGAAAAACCT	0.393000													13	64					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866405	135866405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:135866405C>T	ENST00000339463.3	+	11	1780	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	GFI1B_ENST00000372122.1_Missense_Mutation_p.R321W|GFI1B_ENST00000450530.1_Missense_Mutation_p.R321W|GFI1B_ENST00000534944.1_Missense_Mutation_p.R275W|GFI1B_ENST00000372124.1_Missense_Mutation_p.R275W|GFI1B_ENST00000372123.1_Missense_Mutation_p.R275W			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	321	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R321W(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGACCTGCGGCGGCACCGCGA	0.652000													6	61					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305682	32305682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:32305682C>T	ENST00000357033.4	-	43	6460	c.6254G>A	c.(6253-6255)tGg>tAg	p.W2085*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W2081*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2085					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTTCCCATTGGAAATC	0.398000													31	28					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771922	150771922	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:150771922T>A	ENST00000485713.1	+	19	4081	c.3041T>A	c.(3040-3042)aTc>aAc	p.I1014N	SLC4A2_ENST00000310317.5_Missense_Mutation_p.I932N|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I1000N|SLC4A2_ENST00000392826.2_Missense_Mutation_p.I1005N|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1014N	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1014	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACACAGATCACCACGTGA	0.602000													13	8					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37157808	37157808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr5:37157808T>C	ENST00000274258.7	-	40	8202	c.4615A>G	c.(4615-4617)Act>Gct	p.T1539A	C5orf42_ENST00000508244.1_Missense_Mutation_p.T2641A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2641A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2641										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACAGCATTAGTAACTGAAGCT	0.328000													15	68					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926266	172926266	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:172926266C>T	ENST00000315796.4	+	2	468	c.81C>T	c.(79-81)taC>taT	p.Y27Y		NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	27					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATCATATCTACTTACACAAGC	0.363000													14	189					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671570	112671570	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:112671570T>C	ENST00000441065.2	+	3	972	c.660T>C	c.(658-660)ttT>ttC	p.F220F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAATCCAGTTTTTTGATGTTG	0.458000													13	57					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973400	29973400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chrX:29973400T>G	ENST00000378993.1	+	11	2227	c.1554T>G	c.(1552-1554)atT>atG	p.I518M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I518M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	518	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGAGGAATTATGAACTACC	0.448000													27	17					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345347	5345347	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr11:5345347G>A	ENST00000328813.2	-	1	235	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTGAGGAAGTAGTAC	0.512000													14	94					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727528	11727528	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:11727528C>T	ENST00000361113.5	+	4	418	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZNF627_ENST00000588174.1_Silent_p.L67L	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGAGAGACTCTGTGAAAGTA	0.328000													10	86					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136643	40136643	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:40136643T>A	ENST00000278198.2	-	2	3163	c.1200A>T	c.(1198-1200)aaA>aaT	p.K400N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K400N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K400N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	400	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTATCCGCACTTTGTACGCCC	0.463000													38	160					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021855	96021855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:96021855C>T	ENST00000297954.4	+	11	3025	c.3025C>T	c.(3025-3027)Ctt>Ttt	p.L1009F	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.L621F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L1009F|WNK2_ENST00000349097.3_Missense_Mutation_p.L621F			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1009					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCCCACCTTCCTGAACA	0.687000													3	17					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186310164	186310164	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:186310164T>C	ENST00000367478.3	-	29	4312	c.4016A>G	c.(4015-4017)aAc>aGc	p.N1339S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1339					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTACCTGGTTACGTGCTTT	0.393000			T	NTRK1	papillary thyroid								32	66					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756831	756831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr18:756831C>G	ENST00000577961.1	-	2	82	c.12G>C	c.(10-12)ttG>ttC	p.L4F	YES1_ENST00000314574.4_5'UTR|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000584307.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	0					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AGCCCATTATCAAATCTACAG	0.343000													11	42					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581498	26581498	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:26581498G>A	ENST00000376261.3	+	14	1994	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	GAD2_ENST00000259271.3_Silent_p.G497G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	497					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGTTTGATGGGAAGGTATGTA	0.388000													10	50					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515672	51515672	+	Missense_Mutation	SNP	A	A	C	rs140334906		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:51515672A>C	ENST00000328188.1	+	1	391	c.391A>C	c.(391-393)Atg>Ctg	p.M131L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M131V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTGCACTATATGACTATCAT	0.478000													46	120					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129886441	129886441	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:129886441C>T	ENST00000281142.5	-	11	1313	c.810G>A	c.(808-810)gaG>gaA	p.E270E	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	270						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTGATGCTTCCTCTCTTCCAT	0.343000													14	44					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196866401	196866401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:196866401G>A	ENST00000312428.6	-	11	1271	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	DNAH7_ENST00000410072.1_Missense_Mutation_p.P391S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	391	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACTTACTGGGGGTTGTGCA	0.368000													21	56					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133948645	133948645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:133948645G>A	ENST00000285928.2	+	20	2465	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	799							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCAACACAGACAACACTCG	0.458000													9	87					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994922	140994922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:140994922C>T	ENST00000285879.4	+	4	2018	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	578							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTCCTCACTACTTTCC	0.582000										HNSCC(15;0.026)			177	139					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392380	74392380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:74392380C>A	ENST00000319380.7	-	14	2702	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	880							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGCACTGCTTCCATCTTCTCC	0.567000													85	146					2.93434e-44	3.40329e-44	1	1	0
ADCY8	114	broad.mit.edu	37	8	132052284	132052284	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:132052284C>A	ENST00000286355.5	-	1	2388	c.296G>T	c.(295-297)cGa>cTa	p.R99L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R99L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	99					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTGCGCTCGCTCTCCCGG	0.736000										HNSCC(32;0.087)			3	8					0.115264	0.116642	1	1	0
BRCA1	672	broad.mit.edu	37	17	41276072	41276072	+	Silent	SNP	G	G	A	rs80356827		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:41276072G>A	ENST00000357654.3	-	2	160	c.42C>T	c.(40-42)gtC>gtT	p.V14V	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Silent_p.V14V|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000491747.2_Silent_p.V14V|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Silent_p.V14V|BRCA1_ENST00000351666.3_Silent_p.V14V|BRCA1_ENST00000346315.3_Silent_p.V14V|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000471181.2_Silent_p.V14V|BRCA1_ENST00000468300.1_Silent_p.V14V|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	14					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGCATTAATGACATTTTGTA	0.318000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	60					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687979	61687979	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:61687979G>T	ENST00000577390.1	-	12	2887	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	CDH8_ENST00000299345.6_Silent_p.R645R|CDH8_ENST00000577730.1_Silent_p.R645R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGCCGCCGTAGAGTTACA	0.383000													10	53					3.86212e-05	4.10451e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141751681	141751681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:141751681G>A	ENST00000389484.3	-	16	3498	c.2527C>T	c.(2527-2529)Cac>Tac	p.H843Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACATATGTGAGGTAGTGCT	0.408000										TSP Lung(27;0.18)			18	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			27	39					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945701	53945701	+	RNA	SNP	C	C	T	rs12984381	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:53945701C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTGATAATCTCAAGGAGGCAG	0.428000													5	73					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242784	98242784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:98242784C>T	ENST00000430669.2	-	6	1220	c.635G>A	c.(634-636)tGg>tAg	p.W212*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.W127*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.W278*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.W127*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.W212*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.W277*			Q13635	PTC1_HUMAN	patched 1	278					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W278*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CATTTCCTCCCAGCTGTCCAC	0.498000													44	39					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914709	39914709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:39914709C>T	ENST00000393931.3	-	10	1833	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R572Q|JUP_ENST00000393930.1_Missense_Mutation_p.R572Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	572					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATGGGGTCCCGGGCGAGGAT	0.627000													10	47					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74652067	74652067	+	Silent	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:74652067A>T	ENST00000348227.4	+	7	688	c.600A>T	c.(598-600)ccA>ccT	p.P200P	WDR54_ENST00000409791.1_Silent_p.P148P|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	200										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTCAGGGCCAGAATTCACAT	0.522000													32	90					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74494189	74494189	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:74494189C>T	ENST00000373379.1	+	1	265	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Silent_p.L34L			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	34					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ACCTGGCGATCTGATCCTGGA	0.612000													4	12					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													13	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006359	9006359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:9006359C>G	ENST00000397910.4	-	45	39862	c.39659G>C	c.(39658-39660)aGa>aCa	p.R13220T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13222	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGTCTGCAGCCAGA	0.512000													18	58					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47895239	47895239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:47895239G>A	ENST00000503935.2	+	9	1589	c.553G>A	c.(553-555)Gct>Act	p.A185T	KAT7_ENST00000259021.4_Missense_Mutation_p.A341T|KAT7_ENST00000454930.2_Missense_Mutation_p.A202T|KAT7_ENST00000435742.2_Missense_Mutation_p.A155T|KAT7_ENST00000513980.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.A311T|KAT7_ENST00000510819.1_Missense_Mutation_p.A172T|KAT7_ENST00000509773.1_Missense_Mutation_p.A231T			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	341					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TAAAACAATTGCTTTTGGCCG	0.393000													12	52					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266465	50266465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:50266465C>G	ENST00000246801.3	-	1	122	c.40G>C	c.(40-42)Gag>Cag	p.E14Q		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	14							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATGGATCTCTTTGGACTGC	0.657000													32	61					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706569	96706569	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:96706569T>A	ENST00000389672.5	+	3	884	c.846T>A	c.(844-846)ttT>ttA	p.F282L	EPHA6_ENST00000470610.2_Missense_Mutation_p.F282L|EPHA6_ENST00000542517.1_Missense_Mutation_p.F188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	187						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCTGGCTTTTCAAGACATTG	0.453000													52	472					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46900560	46900560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:46900560C>T	ENST00000378623.1	-	22	3276	c.3034G>A	c.(3034-3036)Ggc>Agc	p.G1012S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1012					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G1012C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGCTACAGCCGCCATTCTCC	0.567000													10	195					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	15					2.56e-06	2.7788e-06	1	1	0
TPRX1	284355	broad.mit.edu	37	19	48305438	48305438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:48305438C>T	ENST00000535759.1	-	4	1120	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	TPRX1_ENST00000322175.3_Missense_Mutation_p.G277D|TPRX1_ENST00000543508.1_Missense_Mutation_p.G267D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	277						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGCCTGGGCCTGGGATCTG	0.642000													10	19					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000452041.1_Silent_p.I28I|TAF6_ENST00000472509.1_Silent_p.I85I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567000													22	149					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10412811	10412811	+	Silent	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:10412811G>C	ENST00000226207.5	-	15	1672	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	526	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTCTCGATGAGCTCGATGC	0.443000													42	45					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86344259	86344259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:86344259G>A	ENST00000254630.7	+	6	457	c.391G>A	c.(391-393)Gac>Aac	p.D131N	PTCD3_ENST00000409277.3_Missense_Mutation_p.D131N|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	131						mitochondrion	protein binding	p.D131N(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTTCAGAAGGACATAGCTGA	0.313000													23	36					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151274435	151274435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:151274435C>T	ENST00000368875.2	-	9	2250	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	PI4KB_ENST00000368873.1_Missense_Mutation_p.R545K|PI4KB_ENST00000271657.5_Missense_Mutation_p.R557K|PI4KB_ENST00000368872.1_Missense_Mutation_p.R530K|PI4KB_ENST00000529142.1_Missense_Mutation_p.R213K|PI4KB_ENST00000368874.4_Missense_Mutation_p.R530K	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	545					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCCCTCTCTGATCCGCCT	0.547000													11	50					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158752	77158752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:77158752C>T	ENST00000372524.4	-	2	2182	c.1696G>A	c.(1696-1698)Gcg>Acg	p.A566T	ZNF503_ENST00000535216.1_Missense_Mutation_p.A566T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ATGGCGGCCGCGGCAGCGCTG	0.697000													3	11					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6749698	6749698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:6749698C>T	ENST00000230859.6	+	9	994	c.865C>T	c.(865-867)Cag>Tag	p.Q289*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	289					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAAAGTAACTCAGGAGGTGAT	0.488000													35	153					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760877	153760877	+	Missense_Mutation	SNP	C	C	T	rs137852325		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:153760877C>T	ENST00000393562.2	-	10	1665	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	G6PD_ENST00000393564.2_Missense_Mutation_p.E398K|G6PD_ENST00000369620.2_Missense_Mutation_p.E444K	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	398					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACACGGCCTCGTTGGGCTGC	0.607000													15	63					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24868931	24868931	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr13:24868931G>A	ENST00000424834.2	+	12	3608	c.3135G>A	c.(3133-3135)ctG>ctA	p.L1045L	SPATA13_ENST00000409126.1_Silent_p.L280L|SPATA13_ENST00000399949.2_Silent_p.L342L|SPATA13_ENST00000343003.6_Silent_p.L364L|SPATA13_ENST00000382095.4_Silent_p.L420L|SPATA13_ENST00000382108.3_Silent_p.L1045L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	420					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCTGTCTGATCAACGAGC	0.488000													6	67					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571468	71571468	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:71571468G>T	ENST00000338482.5	+	3	1231	c.888G>T	c.(886-888)ttG>ttT	p.L296F	CHST4_ENST00000572450.1_Missense_Mutation_p.L296F|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.L296F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	296					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					2.27111e-07	2.49724e-07	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													4	59					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	15					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1222118	1222118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:1222118G>A	ENST00000382952.3	-	4	560	c.176C>T	c.(175-177)gCt>gTt	p.A59V	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70V	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAG	0.622000													4	59					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070259	35070259	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:35070259A>C	ENST00000382002.5	-	7	1078	c.652T>G	c.(652-654)Tgg>Ggg	p.W218G	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.W147G|PRLR_ENST00000342362.5_Missense_Mutation_p.W117G|PRLR_ENST00000310101.5_Missense_Mutation_p.W218G|PRLR_ENST00000348262.3_Missense_Mutation_p.W218G|PRLR_ENST00000511486.1_Missense_Mutation_p.W117G|PRLR_ENST00000513753.1_Missense_Mutation_p.W218G|PRLR_ENST00000231423.3_Missense_Mutation_p.W218G|PRLR_ENST00000542609.1_Missense_Mutation_p.W218G	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	218	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCTGGACTCCATGCACTCCAG	0.433000													14	31					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581705	56581705	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:56581705T>C	ENST00000323456.5	-	13	1568	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	MTMR4_ENST00000579925.1_Missense_Mutation_p.K482E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	482	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTGCTTAAGCAACTGA	0.517000													10	96					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	33					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664039	237664039	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:237664039A>G	ENST00000366574.2	+	21	2549	c.2232A>G	c.(2230-2232)ccA>ccG	p.P744P	RYR2_ENST00000542537.1_Silent_p.P728P|RYR2_ENST00000360064.6_Silent_p.P742P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGCTCACCAAACCAACATC	0.413000													81	205					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479716	4479716	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:4479716G>A	ENST00000237837.1	-	3	694	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	183					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTCCGAGTCGTCCTCGGCGC	0.682000													11	47					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766113	27766113	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:27766113G>T	ENST00000451261.2	+	5	1500	c.1101G>T	c.(1099-1101)gtG>gtT	p.V367V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAAGAAAGTGGGACTGTATA	0.418000													10	8					2.17888e-05	2.33517e-05	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109392196	109392196	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:109392196G>C	ENST00000283195.6	+	24	8427	c.8301G>C	c.(8299-8301)caG>caC	p.Q2767H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2767					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATCTCAGACAGAAGAAA	0.343000													15	88					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23938239	23938239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:23938239G>T	ENST00000402377.3	-	2	259	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGAAGACCAGGTTTCTGTAG	0.353000													19	139					5.03518e-11	5.70954e-11	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133192492	133192492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:133192492C>T	ENST00000388996.4	-	4	1109	c.689G>A	c.(688-690)cGc>cAc	p.R230H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R230H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R110H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	230					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGCAGGAAGCGCAGGCTTCG	0.587000													15	77					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157240172	157240172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:157240172G>A	ENST00000523094.1	-	5	567	c.362C>T	c.(361-363)gCc>gTc	p.A121V	CLINT1_ENST00000530742.1_Missense_Mutation_p.A121V|CLINT1_ENST00000296951.5_Missense_Mutation_p.A121V|CLINT1_ENST00000523908.1_Missense_Mutation_p.A139V|CLINT1_ENST00000411809.2_Missense_Mutation_p.A139V	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	139	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATCCTGGGCAAATTCAAC	0.413000													18	53					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115818900	115818900	+	Missense_Mutation	SNP	T	T	G	rs144129779		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:115818900T>G	ENST00000374227.3	-	1	96	c.69A>C	c.(67-69)gaA>gaC	p.E23D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E23D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E23D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTTGGTCGTTTCCGCACTTC	0.652000													16	134					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498000													32	113					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142937	41142937	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr21:41142937C>T	ENST00000380588.4	+	4	616	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	171	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGACCCGGCTCCCGGATATTT	0.502000													31	37					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357299	79357299	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:79357299G>A	ENST00000370742.3	-	14	1983	c.1920C>T	c.(1918-1920)caC>caT	p.H640H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	640					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCACTGATGCGTGCACAACAT	0.448000													20	29					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185774946	185774946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:185774946G>A	ENST00000306376.5	-	11	1373	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.T418I|ETV5_ENST00000434744.1_Missense_Mutation_p.T376I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	376					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCAAGAAGGGTGACCAGGAA	0.552000			T	"""TMPRSS2, SCL45A3"""	Prostate								34	127					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183891440	183891440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:183891440G>A	ENST00000304685.3	+	18	2655	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	RGL1_ENST00000536277.1_Missense_Mutation_p.E695K|RGL1_ENST00000360851.3_Missense_Mutation_p.E697K|RGL1_ENST00000539189.1_Missense_Mutation_p.E668K|RGL1_ENST00000367531.1_Missense_Mutation_p.E732K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	697	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGAGGAGTACGAGCTGGTGCA	0.572000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88405860	88405860	+	Missense_Mutation	SNP	G	G	A	rs114851602	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:88405860G>A	ENST00000419482.2	+	8	1083	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	SMYD1_ENST00000444564.2_Missense_Mutation_p.R320Q|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R333Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AAATTATGCCGGGAGTGCCTG	0.522000													15	46					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670062	49670062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:49670062C>T	ENST00000561648.1	-	4	3054	c.3001G>A	c.(3001-3003)Gag>Aag	p.E1001K	ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E884K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E884K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATAAACTCCTCCTCGCTCTGC	0.592000													5	29					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202473	24202473	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:24202473A>T	ENST00000303531.7	+	16	1937	c.1785A>T	c.(1783-1785)aaA>aaT	p.K595N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K595N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	595	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTGATATCAAAGAGCATGCAT	0.443000													6	94					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805525	1805525	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:1805525C>T	ENST00000399161.2	-	23	3966	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	MYT1L_ENST00000428368.2_Silent_p.K1071K|MYT1L_ENST00000407844.1_Silent_p.K69K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1073					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATTTAGCTCCTTGATTTCTT	0.323000													30	102					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058461	53058461	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:53058461G>A	ENST00000359798.4	+	5	2472	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTTACAAGTGTAACGACT	0.443000													11	230					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627337	148627337	+	Missense_Mutation	SNP	G	G	A	rs149793182	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:148627337G>A	ENST00000441248.1	+	3	1748	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40A_ENST00000423421.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000514208.1_Missense_Mutation_p.R54Q|CXorf40A_ENST00000422892.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000393985.3_Missense_Mutation_p.R54Q|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000359293.5_Missense_Mutation_p.R54Q|CXorf40A_ENST00000434353.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000450602.2_Missense_Mutation_p.R54Q|CXorf40A_ENST00000423540.2_Missense_Mutation_p.R54Q			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	54							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATGCCTGGCGGGAGCTGCTG	0.592000													14	26					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	40					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817161	150817161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:150817161G>A	ENST00000397238.2	+	8	1057	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.E353K|AGAP3_ENST00000463381.1_Missense_Mutation_p.E125K|AGAP3_ENST00000335367.3_Missense_Mutation_p.E533K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	317	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTGCGCATCGAGACCATCGC	0.652000													31	17					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572647	31572647	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:31572647C>T	ENST00000379416.3	-	26	2922	c.2874G>A	c.(2872-2874)caG>caA	p.Q958Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	958					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTCAAGCTTCTGGTTGAAGT	0.507000													17	110					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41543691	41543691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:41543691G>A	ENST00000396942.1	-	36	4452	c.4369C>T	c.(4369-4371)Cgt>Tgt	p.R1457C	ANK1_ENST00000379758.2_Missense_Mutation_p.R1457C|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCTTCACGGATGACCCAG	0.522000													8	73					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143082405	143082405	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:143082405C>A	ENST00000316549.6	-	14	1733	c.1524_splice	c.e14-1	p.E509_splice		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	509					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATTTGCTTCCTGGGGAGAA	0.318000													14	117					9.31168e-06	1.00645e-05	1	1	0
ZNF616	90317	broad.mit.edu	37	19	52619089	52619089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:52619089C>A	ENST00000600228.1	-	4	1589	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTACACCTTGCCACATTTATT	0.388000													13	148					0.0135373	0.0138648	1	1	0
PHF3	23469	broad.mit.edu	37	6	64394278	64394278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:64394278C>T	ENST00000262043.3	+	4	995	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	PHF3_ENST00000393387.1_Missense_Mutation_p.H219Y|PHF3_ENST00000509330.1_Missense_Mutation_p.H219Y			Q92576	PHF3_HUMAN	PHD finger protein 3	219					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCTTCAAGTCATTCTTCAGT	0.393000													20	102					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271081	65271081	+	RNA	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:65271081C>T	ENST00000534336.1	+	0	5849					NR_002819.2																						AAATAATAAACTATTTTTATT	0.303000													7	56					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722606	201722606	+	Splice_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:201722606G>A	ENST00000434813.2	-	7	1127	c.791_splice	c.e7-1	p.R265_splice	CLK1_ENST00000409769.2_Splice_Site_p.R46_splice|CLK1_ENST00000321356.4_Splice_Site_p.R223_splice	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	223	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGACACAGCGGCTACAAACA	0.353000													19	193					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85456724	85456724	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:85456724G>A	ENST00000316356.4	-	4	909	c.345C>T	c.(343-345)ggC>ggT	p.G115G	SYTL2_ENST00000528231.1_Silent_p.G115G|SYTL2_ENST00000527523.1_Silent_p.G67G|SYTL2_ENST00000524452.1_Silent_p.G115G|SYTL2_ENST00000389960.4_Silent_p.G115G			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	115					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTACAACGCCAGCCAGCT	0.517000													25	102					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660592	57660592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:57660592G>A	ENST00000402412.1	-	19	2443	c.2053C>T	c.(2053-2055)Ccc>Tcc	p.P685S	R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P671S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P671S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P366S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P398S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P705S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	671	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCCAGGGGGTTGCAGAAAC	0.552000													5	19					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102677620	102677620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:102677620A>C	ENST00000259400.6	+	2	235	c.99A>C	c.(97-99)agA>agC	p.R33S	STX17_ENST00000534052.1_Missense_Mutation_p.R33S|STX17_ENST00000525640.1_Missense_Mutation_p.R33S|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	33					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAAGGTTAAGAAAGCACCAGA	0.343000													21	56					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011492	50011492	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:50011492G>A	ENST00000322246.4	-	2	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	46					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACTAAAGGTGATATGGTGCC	0.403000													16	51					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221227	161221227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:161221227G>A	ENST00000327928.4	+	4	931	c.931G>A	c.(931-933)Ggt>Agt	p.G311S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	311	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGGCCGAAGGGTGACATTGG	0.597000													20	26					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42466667	42466667	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:42466667C>G	ENST00000262407.5	-	1	206	c.175G>C	c.(175-177)Gac>Cac	p.D59H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D59H	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	59					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCATGGCTGTCCTTGTGGAAG	0.587000													17	154					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	56					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114499787	114499787	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:114499787G>A	ENST00000369558.1	+	7	1866	c.1634G>A	c.(1633-1635)aGg>aAg	p.R545K	HIPK1_ENST00000369553.1_Missense_Mutation_p.R151K|HIPK1_ENST00000369554.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369561.4_Missense_Mutation_p.R545K|HIPK1_ENST00000369555.2_Missense_Mutation_p.R545K|HIPK1_ENST00000340480.4_Missense_Mutation_p.R171K|HIPK1_ENST00000426820.2_Missense_Mutation_p.R545K|HIPK1_ENST00000369559.4_Missense_Mutation_p.R545K|HIPK1_ENST00000406344.1_Missense_Mutation_p.R151K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAAGCGGAGGGTTCACATG	0.388000													26	26					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50285363	50285363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:50285363C>T	ENST00000332853.3	-	4	558	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	179						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACAGCATACACATAGAGATCT	0.512000													10	27					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80333144	80333144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:80333144A>G	ENST00000313135.2	+	1	992	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	315						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCCTTCCTCTACACGCTGCTC	0.736000													5	4					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455848	5455848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:5455848C>G	ENST00000222033.4	+	1	423	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	116						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTTTGCGGATCTGCCGGCGCT	0.672000													16	87					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437867	243437867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:243437867C>T	ENST00000366541.3	+	4	447	c.329C>T	c.(328-330)aCc>aTc	p.T110I	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110I|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110I|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGAGGAAACCAATATGCCT	0.299000													17	41					0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243866	88243866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:88243866C>G	ENST00000328546.4	-	1	192	c.128G>C	c.(127-129)gGa>gCa	p.G43A	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.G43A	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	43						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATGCCCAGCTCCAGTAATGAG	0.423000													5	92					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138093	31138093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:31138093C>G	ENST00000538351.1	-	7	1848	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	ZNF438_ENST00000444692.2_Missense_Mutation_p.R404T|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000442986.1_Missense_Mutation_p.R414T|ZNF438_ENST00000436087.2_Missense_Mutation_p.R414T|ZNF438_ENST00000452305.1_Missense_Mutation_p.R404T|ZNF438_ENST00000413025.1_Missense_Mutation_p.R414T|ZNF438_ENST00000331737.6_Missense_Mutation_p.R404T|ZNF438_ENST00000361310.3_Missense_Mutation_p.R414T	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTACTCTTTCTTTACC	0.378000													8	32					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164217	2164217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:2164217C>T	ENST00000262304.4	-	11	3015	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	PKD1_ENST00000423118.1_Missense_Mutation_p.R936H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	936	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGCGTGGCGCGGAGGCCACA	0.697000													3	29					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118425293	118425293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:118425293C>G	ENST00000369210.3	-	3	154	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C10orf82_ENST00000588184.1_Missense_Mutation_p.D34H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	34										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGGTTCATGTCATCCTCCTTG	0.517000													15	50					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250371	140250371	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:140250371G>A	ENST00000398640.2	+	1	1683	c.1683G>A	c.(1681-1683)gcG>gcA	p.A561A	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGC	0.682000													33	108					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:17766855G>A	ENST00000428389.2	-	11	1383	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652000													3	4					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306666	14306666	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr20:14306666C>G	ENST00000378053.3	-	2	1743	c.1487G>C	c.(1486-1488)tGt>tCt	p.C496S	FLRT3_ENST00000341420.4_Missense_Mutation_p.C496S|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	496	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGTCTCAATACAAACAGGAGT	0.448000													23	67					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850873	13850873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:13850873G>A	ENST00000265104.4	-	31	5106	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1668	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATGTGCCCGAGTCATGATC	0.468000									Kartagener syndrome				27	87					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785327	24785327	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:24785327C>G	ENST00000396789.4	+	2	2195	c.470C>G	c.(469-471)aCa>aGa	p.T157R	LTB4R_ENST00000345363.3_Missense_Mutation_p.T157R|LTB4R_ENST00000396782.2_Missense_Mutation_p.T157R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCGTACCGCACAGTAGTGCCC	0.632000													68	41					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398000													10	56					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437866	243437866	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:243437866A>T	ENST00000366541.3	+	4	446	c.328A>T	c.(328-330)Acc>Tcc	p.T110S	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T110S|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T110S|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	110					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ACATGAGGAAACCAATATGCC	0.294000													17	41					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34863073	34863073	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).				binding	p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512000													13	60					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875236	75875236	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:75875236A>G	ENST00000322507.8	-	14	3279	c.2970T>C	c.(2968-2970)gaT>gaC	p.D990D	COL12A1_ENST00000483888.2_Silent_p.D990D|COL12A1_ENST00000416123.2_Silent_p.D990D|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	990	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTGTGGCATCTCCAGTCA	0.423000													12	120					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854255	40854255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:40854255C>G	ENST00000254691.5	+	3	3020	c.2821C>G	c.(2821-2823)Cag>Gag	p.Q941E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	941					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAAGAGCTCTCAGTTCAAATC	0.493000													29	206					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130768	45130768	+	Missense_Mutation	SNP	G	G	A	rs141823361	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr20:45130768G>A	ENST00000457685.2	-	6	2419	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	ZNF334_ENST00000347606.4_Missense_Mutation_p.P404S|ZNF334_ENST00000593880.1_Missense_Mutation_p.P427S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438000													25	129					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737360	13737360	+	Splice_Site	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:13737360C>A	ENST00000265104.4	-	66	11560		c.e66+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCAAACTCACCAGGTCTGTA	0.403000									Kartagener syndrome				25	90					1.55469e-16	1.79497e-16	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804524	22804524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr18:22804524G>A	ENST00000361524.3	-	4	3506	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q1120*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q900*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1120					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCTCATTCTGGCCCAAGCCT	0.552000			T	PAX5	ALL								6	38					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2883674	2883674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:2883674G>A	ENST00000355842.3	+	4	1108	c.245G>A	c.(244-246)gGg>gAg	p.G82E	ADD1_ENST00000264758.7_Missense_Mutation_p.G82E|ADD1_ENST00000398129.1_Missense_Mutation_p.G82E|ADD1_ENST00000513328.2_Missense_Mutation_p.G82E|ADD1_ENST00000503455.2_Missense_Mutation_p.G82E|ADD1_ENST00000446856.1_Missense_Mutation_p.G82E|ADD1_ENST00000398125.1_Missense_Mutation_p.G82E|ADD1_ENST00000398123.2_Missense_Mutation_p.G82E			P35611	ADDA_HUMAN	adducin 1 (alpha)	82					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTAAGAAGGGGAAGAACCCC	0.408000													14	84					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783161	164783161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:164783161C>T	ENST00000264382.3	-	7	757	c.695G>A	c.(694-696)cGt>cAt	p.R232H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	232	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTGGAAGACGGGTTGAGAT	0.353000										HNSCC(35;0.089)			8	63					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563136	45563136	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr21:45563136G>C	ENST00000291577.6	+	6	664	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.E160Q	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	191						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CAGAGGCGTCGAGGTGACTGT	0.622000													8	17					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90459426	90459426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:90459426C>T	ENST00000369393.3	-	25	3566	c.3451G>A	c.(3451-3453)Gat>Aat	p.D1151N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1151N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1151					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAATTCATCTAAAATAATC	0.353000													34	51					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103029735	103029735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:103029735C>T	ENST00000375735.2	+	28	4501	c.4357C>T	c.(4357-4359)Cac>Tac	p.H1453Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H1453Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1453	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTCAGTCTCACCTGAAGAA	0.363000													3	14					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537796	37537796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:37537796C>G	ENST00000432825.2	-	3	778	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	244						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCACAGTTTTCCAGGACACAC	0.498000													6	49					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20843396	20843396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:20843396C>T	ENST00000328879.4	-	2	259	c.103G>A	c.(103-105)Gct>Act	p.A35T	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	35					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGAGCAGAGCCTGGGAGTGC	0.627000													17	41					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609450	81609450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:81609450G>A	ENST00000541158.2	+	11	1370	c.1048G>A	c.(1048-1050)Gct>Act	p.A350T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A350T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	350					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCATAACAACGCTCATTATTA	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						16	78					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770328	53770328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:53770328C>A	ENST00000311170.4	-	1	644	c.591G>T	c.(589-591)tgG>tgT	p.W197C		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	197					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGCTGACCCAGAGCATGA	0.537000										HNSCC(26;0.072)			12	38					0.000308642	0.000322613	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50946288	50946288	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:50946288C>T	ENST00000374103.4	-	18	2425	c.2340G>A	c.(2338-2340)gcG>gcA	p.A780A	OGDHL_ENST00000432695.1_Silent_p.A571A|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.A723A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	780					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617000													9	27					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318957	71318957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:71318957G>T	ENST00000338099.5	-	3	1203	c.867C>A	c.(865-867)taC>taA	p.Y289*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Y289*			Q8IYT2	FTSJ1_HUMAN		289						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTTTAGCAGGTACATCAAGT	0.418000													9	87					0.000274275	0.000287876	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32630185	32630185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:32630185G>A	ENST00000242310.4	-	1	5482	c.5393C>T	c.(5392-5394)tCt>tTt	p.S1798F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1798					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCACATCAGAGTCACTTCC	0.453000													14	82					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958202	176958202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:176958202G>A	ENST00000392539.3	+	1	584	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	195					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTCTACCAGGGCTATACGAGC	0.622000			T	NUP98	AML*								11	71					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145809656	145809656	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:145809656G>T	ENST00000282903.5	-	8	987	c.810C>A	c.(808-810)ccC>ccA	p.P270P	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.P215P|PLOD2_ENST00000360060.3_Silent_p.P270P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	270					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCATGAATTGGGTACATAGT	0.373000													6	70					0.00116845	0.00120644	1	1	0
BMS1	9790	broad.mit.edu	37	10	43285840	43285840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:43285840G>A	ENST00000374518.4	+	5	580	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	173					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTGTCAAGTACATGGCTT	0.378000													18	66					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439149	75439149	+	Missense_Mutation	SNP	C	C	T	rs144185928		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:75439149C>T	ENST00000526712.1	+	3	1137	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R204W			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	204					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCTGTTACTGCGGAACCGAAA	0.562000													10	30					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880679	37880679	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:37880679C>T	ENST00000436120.2	+	5	1835	c.1728C>T	c.(1726-1728)caC>caT	p.H576H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAATTCACGCTGGAGAAA	0.388000													15	63					0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	381402	381402	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:381402A>T	ENST00000276326.5	+	3	315	c.196A>T	c.(196-198)Aaa>Taa	p.K66*	FBXO25_ENST00000352684.2_Missense_Mutation_p.K15N|FBXO25_ENST00000382824.1_Missense_Mutation_p.K15N|FBXO25_ENST00000350302.3_Nonsense_Mutation_p.K66*	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	66	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGCATCGAAAAAAAGGAAAAA	0.249000													10	54					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132435688	132435688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:132435688T>C	ENST00000326682.8	-	4	812	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	NPHP3_ENST00000337331.5_Missense_Mutation_p.M246V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	246					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGGATCATGCTTCCTATG	0.458000													24	105					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808991	18808991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:18808991G>A	ENST00000400664.1	+	1	1568	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	506						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGACTCCGGCGGCCTCTG	0.697000													11	54					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119642255	119642255	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:119642255G>C	ENST00000264235.8	-	4	1424	c.442C>G	c.(442-444)Cga>Gga	p.R148G	GSK3B_ENST00000316626.5_Missense_Mutation_p.R148G	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	148	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGTTTGGCTCGACTATAGTGT	0.358000													3	25					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034658	58034658	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:58034658G>T	ENST00000395079.2	-	1	1074	c.673C>A	c.(673-675)Cgc>Agc	p.R225S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCCGGTGGCGGCCAGCAGCC	0.587000													14	43					2.4624e-09	2.76747e-09	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1222119	1222119	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:1222119C>A	ENST00000382952.3	-	4	559	c.175G>T	c.(175-177)Gct>Tct	p.A59S	CTBP1_ENST00000290921.6_Missense_Mutation_p.A70S	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCCACAGCCTCGTTCAGG	0.617000													4	59					0.000602214	0.000626895	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204228389	204228389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:204228389C>T	ENST00000272203.3	-	8	1320	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R355Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	335	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCTCACCTCCGAAGGTCTTC	0.617000													6	33					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516145	78516145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:78516145G>A	ENST00000397909.2	+	16	4348	c.4175G>A	c.(4174-4176)gGc>gAc	p.G1392D	NAV3_ENST00000536525.2_Missense_Mutation_p.G1392D|NAV3_ENST00000228327.6_Missense_Mutation_p.G1392D|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1392	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGACCACAGGCACTCACGAG	0.547000										HNSCC(70;0.22)			26	101					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789513	73789513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:73789513G>A	ENST00000334126.7	-	23	4476	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1417L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1417				P -> S (in Ref. 1; BAE17137).		centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAATGGATGGGCAGCCACAG	0.493000													26	52					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581256	24581256	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:24581256G>T	ENST00000358321.3	+	6	1238	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	326	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GACTCCGGCCGCTTCTTCGTG	0.677000													6	15					0.0215528	0.0219855	1	1	0
DNM3	26052	broad.mit.edu	37	1	172356476	172356476	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:172356476C>T	ENST00000358155.4	+	19	2438	c.2262C>T	c.(2260-2262)gaC>gaT	p.D754D	DNM3_ENST00000367731.1_Silent_p.D750D|DNM3_ENST00000355305.5_Silent_p.D760D	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	760					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGTGGATGACTCCTGGATAC	0.592000													5	25					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71103643	71103643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:71103643C>T	ENST00000448642.2	+	7	618	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	HK1_ENST00000360289.2_Missense_Mutation_p.R30C|HK1_ENST00000404387.2_Missense_Mutation_p.R46C|HK1_ENST00000359426.6_Missense_Mutation_p.R42C|HK1_ENST00000298649.3_Missense_Mutation_p.R41C|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	42	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TATCATGACTCGCTTCAGGAA	0.498000													17	121					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517599	63517599	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:63517599C>T	ENST00000377819.5	+	4	2821	c.2667C>T	c.(2665-2667)gtC>gtT	p.V889V	RTN3_ENST00000537981.1_Silent_p.V93V|RTN3_ENST00000540798.1_Silent_p.V777V|RTN3_ENST00000354497.4_Silent_p.V93V|RTN3_ENST00000356000.3_Silent_p.V112V|RTN3_ENST00000339997.4_Silent_p.V870V|RTN3_ENST00000341307.2_Silent_p.V93V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	889	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTCTCTCTGTCACCATCAGCT	0.473000													4	16					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124540208	124540208	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:124540208G>A	ENST00000296181.4	-	6	1190	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	298	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGTGGCACTGGCCATCGTGTG	0.572000													4	62					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109660402	109660402	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:109660402A>G	ENST00000338432.7	+	25	3774	c.3655A>G	c.(3655-3657)Aaa>Gaa	p.K1219E	ACACB_ENST00000377848.3_Missense_Mutation_p.K1219E|ACACB_ENST00000377854.5_Missense_Mutation_p.K1149E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1219					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGAGCACTGCAAAGTGGCCCT	0.622000													5	34					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260835	96260835	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:96260835A>G	ENST00000272395.2	+	3	585	c.449A>G	c.(448-450)aAg>aGg	p.K150R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	150						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTATGGAAAAAGATTCAAGAA	0.403000													24	31					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118396336	118396336	+	RNA	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:118396336T>C	ENST00000537242.1	+	0	1003				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCCCAAAATGGGGCACTAT	0.403000													3	10					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185142	56185142	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:56185142G>A	ENST00000312253.1	-	1	566	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTGTGTCTGAGCAGGACAGAG	0.428000													14	61					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970331	111970331	+	Silent	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:111970331G>C	ENST00000450657.1	+	7	877	c.861G>C	c.(859-861)ctG>ctC	p.L287L	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000361822.3_Intron			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	0						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAATCTTTCTGAGGACCAACT	0.303000													10	27					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123914854	123914854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:123914854C>T	ENST00000373855.1	+	26	4315	c.4055C>T	c.(4054-4056)tCg>tTg	p.S1352L	CNTRL_ENST00000373850.1_Missense_Mutation_p.S800L|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1352L|CNTRL_ENST00000373847.1_Missense_Mutation_p.S800L|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1352					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGCGGCAGTCGGAGAAAGAA	0.383000													52	41					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012395	29012395	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:29012395C>T	ENST00000377175.1	-	1	622	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGCTATCTTGACCAGAG	0.403000													28	113					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461296	5461296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:5461296G>A	ENST00000296564.7	+	13	2071	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	617										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGACTCAGGTGATGGAATGGA	0.418000													46	85					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68934362	68934362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:68934362G>A	ENST00000288368.4	+	4	705	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	143	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R143Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACAATCCGGACATTTCTT	0.328000													19	25					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319810	132319810	+	Missense_Mutation	SNP	G	G	T	rs141386637	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:132319810G>T	ENST00000249887.2	+	2	665	c.569G>T	c.(568-570)cGc>cTc	p.R190L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		ATTTTCCCCCGCTACCTAGGA	0.423000													6	64					1.15088e-07	1.27097e-07	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22171649	22171649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:22171649G>T	ENST00000397126.4	-	2	214	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.D22E|ZNF208_ENST00000601773.1_Missense_Mutation_p.D22E	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTGTGCAGTGTCCAGGCATT	0.398000													37	189					2.20474e-14	2.52254e-14	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73678290	73678290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:73678290G>C	ENST00000264448.6	+	8	4744	c.4633G>C	c.(4633-4635)Gag>Cag	p.E1545Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1503Q|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1545Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1545	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATACCTGAAGAGGCTCTCAG	0.473000													38	201					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16256934	16256934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:16256934C>T	ENST00000205557.7	-	24	3451	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1141	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCCTGGGTTCGGAATGCCCG	0.597000													18	75					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447464	226447464	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:226447464G>T	ENST00000272907.6	+	4	1744	c.1331G>T	c.(1330-1332)aGg>aTg	p.R444M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	444	Pro-rich.																AGCATGGGGAGGTCCCTGACT	0.637000													9	24					7.48243e-07	8.15681e-07	1	1	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033161	37033161	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:37033161C>G	ENST00000322716.5	-	1	1634	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	470						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTCTCAAATTCTTTTTGGAGA	0.328000													3	21					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526576	23526576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:23526576C>A	ENST00000296682.3	+	11	1561	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAAAGGTCCAAACTCTTG	0.468000										HNSCC(3;0.000094)			6	47					0.217242	0.218101	1	1	0
ZNF282	8427	broad.mit.edu	37	7	148895756	148895756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:148895756G>A	ENST00000262085.3	+	2	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637000													13	81					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170405	121170405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:121170405C>G	ENST00000297848.3	+	3	395	c.125C>G	c.(124-126)tCt>tGt	p.S42C	COL14A1_ENST00000309791.4_Missense_Mutation_p.S42C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S42C|COL14A1_ENST00000537875.1_Missense_Mutation_p.S42C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	42	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343000													12	72					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751321	19751321	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr13:19751321G>C	ENST00000400113.3	-	4	906	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGCCAGGGGGAAGTGGATG	0.617000													40	113					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56130445	56130445	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:56130445C>G	ENST00000275603.4	+	13	1739	c.1520C>G	c.(1519-1521)tCc>tGc	p.S507C	CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.S476C|CCT6A_ENST00000335503.3_Missense_Mutation_p.S462C	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	507					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTTCACTCCTGGTAAGTT	0.378000													18	58					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612629	158612629	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:158612629G>T	ENST00000368148.3	-	32	4760	c.4580C>A	c.(4579-4581)tCc>tAc	p.S1527Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1527Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1527					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S1527Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTTGTAGGATTCATCACA	0.443000													27	98					1.08312e-15	1.24485e-15	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16528779	16528779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:16528779C>T	ENST00000602009.1	-	5	1520	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPS15L1_ENST00000597937.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E363K|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E363K|EPS15L1_ENST00000248070.6_Missense_Mutation_p.E363K			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	363	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGCCTCTCTCCGAAGGCGGG	0.592000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	69					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028206	170028206	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:170028206C>T	ENST00000284637.9	-	11	2631	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	764						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGGCCACCTCCTGGTGGCAGT	0.672000													13	31					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590194	140590194	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:140590194G>T	ENST00000239450.2	+	1	1904	c.1715G>T	c.(1714-1716)tGc>tTc	p.C572F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.C235F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		572	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCCCTGCACCGAGCTG	0.701000													40	59					2.59497e-14	2.95571e-14	1	1	0
FKRP	79147	broad.mit.edu	37	19	47258781	47258781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:47258781C>T	ENST00000318584.5	+	4	371	c.74C>T	c.(73-75)tCg>tTg	p.S25L	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.S25L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	25						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTCTATGTCTCGTGGCTGCAG	0.701000													4	22					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228545	77228545	+	Silent	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:77228545G>T	ENST00000248248.3	+	4	1139	c.789G>T	c.(787-789)gcG>gcT	p.A263A	MON1B_ENST00000439557.2_Silent_p.A154A|MON1B_ENST00000545553.1_Silent_p.A117A|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	263							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACTAGGTGCGCTCCTCCGAC	0.657000													9	37					5.4927e-09	6.14602e-09	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108110642	108110642	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:108110642C>G	ENST00000374720.3	+	5	657	c.410C>G	c.(409-411)tCa>tGa	p.S137*	SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.S137*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.S137*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	137						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TCAACAGGTTCAGCCCTATGT	0.353000													15	61					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671406	151671406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:151671406C>T	ENST00000402676.2	+	4	2120	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	AKAP12_ENST00000359755.5_Missense_Mutation_p.S522L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S529L|AKAP12_ENST00000253332.1_Missense_Mutation_p.S627L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	627	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGACGGCCTTCGGAAAGTGAT	0.488000													6	32					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363306	21363306	+	RNA	SNP	G	G	A	rs2075274	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:21363306G>A	ENST00000452284.1	+	0	973				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GATGACCAGGGCGTAGGTGGC	0.582000													5	92					0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7754154	7754154	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:7754154C>A	ENST00000346664.5	-	11	1103	c.891G>T	c.(889-891)gcG>gcT	p.A297A	FCER2_ENST00000597921.1_Silent_p.A297A|FCER2_ENST00000360067.4_Silent_p.A296A	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	297					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCATGGACTCCGCGGAACCTT	0.677000													7	23					0.000157383	0.000165873	1	1	0
BANK1	55024	broad.mit.edu	37	4	102984276	102984276	+	Silent	SNP	A	A	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:102984276A>G	ENST00000504592.1	+	17	2566	c.2148A>G	c.(2146-2148)ccA>ccG	p.P716P	BANK1_ENST00000428908.1_Silent_p.P598P|BANK1_ENST00000444316.2_Silent_p.P701P|BANK1_ENST00000322953.4_Silent_p.P731P|BANK1_ENST00000508653.1_Silent_p.P598P			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	731					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGAAAAGGCCAGAAGAAGAAA	0.358000													6	47					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33592764	33592764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:33592764G>A	ENST00000299977.4	+	5	2681	c.2533G>A	c.(2533-2535)Gtc>Atc	p.V845I	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	845					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTGGACAGTGTCTGTCGATT	0.488000													13	88					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150265	37150265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr20:37150265G>C	ENST00000262879.6	+	10	1827	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E515Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E515Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E293Q|RALGAPB_ENST00000537204.1_Intron			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	515					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGAAGAGCTGAGGCTTGTGG	0.413000													26	101					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92491671	92491671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:92491671G>A	ENST00000267622.4	-	3	668	c.295C>T	c.(295-297)Caa>Taa	p.Q99*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	99					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGTTGAAGTTGATTTCGGTAA	0.308000			T	PDGFRB	AML								12	20					0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38773502	38773502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr15:38773502G>T	ENST00000397609.2	+	7	774	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	FAM98B_ENST00000491535.1_Missense_Mutation_p.D247Y	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	247						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGTAAAAACAGATGATATAGC	0.328000													9	44					7.48243e-07	8.15681e-07	1	1	0
OR13A1	79290	broad.mit.edu	37	10	45799763	45799763	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:45799763C>T	ENST00000553795.1	-	4	416	c.108G>A	c.(106-108)tcG>tcA	p.S36S	OR13A1_ENST00000374401.2_Silent_p.S36S|OR13A1_ENST00000536058.1_Silent_p.S36S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S36S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTGGGTGCTCCGAAAAGCCCT	0.527000													12	33					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20905254	20905254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:20905254G>A	ENST00000266509.2	+	15	2299	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLCO1C1_ENST00000381552.1_Silent_p.G678G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G595E|SLCO1C1_ENST00000545102.1_Silent_p.G560G|SLCO1C1_ENST00000545604.1_Silent_p.G678G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	644					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATATATCTGGGACTAACTGTG	0.303000													10	34					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59407110	59407110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:59407110G>C	ENST00000301645.3	-	4	1131	c.994C>G	c.(994-996)Cct>Gct	p.P332A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	332					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAACAAATAGGATTGCCTTCC	0.373000									Neonatal Giant Cell Hepatitis				32	43					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526577	23526577	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:23526577C>A	ENST00000296682.3	+	11	1562	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	460					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGAAAGGTCCAAACTCTTGA	0.463000										HNSCC(3;0.000094)			6	46					0.217242	0.218101	1	1	0
PRTG	283659	broad.mit.edu	37	15	55933315	55933315	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr15:55933315G>A	ENST00000389286.4	-	12	2180	c.2133C>T	c.(2131-2133)tgC>tgT	p.C711C		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	711					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTACACACGCATCCTGGAG	0.448000													4	33					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23179757	23179757	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:23179757T>G	ENST00000389131.3	-	7	1557	c.1188A>C	c.(1186-1188)acA>acC	p.T396T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	396	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTCATTGCCTGTGCACTGGA	0.517000													28	41					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13545814	13545814	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:13545814G>A	ENST00000382438.5	-	1	860	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	75					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTCTGGTACCGGCAGGAGACG	0.731000													6	9					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945504	53945504	+	RNA	SNP	C	C	T	rs12983857	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:53945504C>T	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGGTGGCTCGTAAGTTGGT	0.483000													5	59					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82832967	82832967	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:82832967A>T	ENST00000265077.3	+	8	4710	c.4145A>T	c.(4144-4146)gAc>gTc	p.D1382V	VCAN_ENST00000343200.5_Missense_Mutation_p.D395V|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGAAATAGACCTATACCAC	0.383000													12	41					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70645045	70645045	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:70645045C>A	ENST00000542342.2	-	9	935	c.847G>T	c.(847-849)Gcc>Tcc	p.A283S	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.A276S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	283					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCACCACGGCAAAGGCACCA	0.622000													11	18					1.61879e-10	1.82744e-10	1	1	0
SKIL	6498	broad.mit.edu	37	3	170099035	170099035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:170099035G>C	ENST00000458537.3	+	2	1811	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	SKIL_ENST00000426052.2_Missense_Mutation_p.D348H|SKIL_ENST00000259119.4_Missense_Mutation_p.D368H|SKIL_ENST00000413427.2_Missense_Mutation_p.D368H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	368					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTGCAGACAGATGCACCATC	0.403000													14	177					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106638773	106638773	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:106638773G>A	ENST00000515279.1	+	2	223	c.3G>A	c.(1-3)atG>atA	p.M1I	GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000360505.5_Start_Codon_SNP_p.M1I|GSTCD_ENST00000394728.3_Start_Codon_SNP_p.M1I|GSTCD_ENST00000507281.1_Start_Codon_SNP_p.M1I			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	1						cytoplasm	rRNA methyltransferase activity	p.M1I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAAGAAAATGAAAGCCATAA	0.313000													8	35					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588430	247588430	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:247588430T>G	ENST00000366497.2	+	4	2465	c.1685T>G	c.(1684-1686)cTg>cGg	p.L562R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L562R|NLRP3_ENST00000336119.3_Missense_Mutation_p.L562R|NLRP3_ENST00000391828.3_Missense_Mutation_p.L562R|NLRP3_ENST00000348069.2_Missense_Mutation_p.L562R|NLRP3_ENST00000366496.2_Missense_Mutation_p.L562R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	562					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAGTCCTTCTGGAAAACTAT	0.478000													9	48					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283935	101283935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:101283935C>T	ENST00000309922.6	+	2	464	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GTGGAGATTGCTTGGCAGAGA	0.368000													16	225					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405241	139405241	+	Silent	SNP	G	G	A	rs115235667	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:139405241G>A	ENST00000277541.6	-	17	2679	c.2604C>T	c.(2602-2604)gtC>gtT	p.V868V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	868					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGATGTCGACCTCACAGG	0.706000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	17					0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529255	13529255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr12:13529255C>T	ENST00000318426.2	-	2	302	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C12orf36_ENST00000532841.1_Missense_Mutation_p.D29N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D29N|C12orf36_ENST00000527705.2_Missense_Mutation_p.D29N|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		catgaagtgtcttcatcagga	0.478000													12	28					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164773033	164773033	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:164773033T>G	ENST00000264382.3	-	13	1523	c.1461A>C	c.(1459-1461)gcA>gcC	p.A487A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	487	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCATTCATTTGCCCACCAAT	0.343000										HNSCC(35;0.089)			65	77					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177016735	177016735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:177016735C>T	ENST00000306324.3	+	1	786	c.374C>T	c.(373-375)aCg>aTg	p.T125M	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCTCCGGGACGGCACTCAAG	0.682000													5	28					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385808	79385808	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:79385808A>T	ENST00000393878.1	-	2	418	c.164T>A	c.(163-165)tTt>tAt	p.F55Y	REG3A_ENST00000305165.2_Missense_Mutation_p.F55Y|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Missense_Mutation_p.F55Y	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	55	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGGTGACAAAAACAAGGCATA	0.552000													23	42					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687000													3	15					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614794	135614794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:135614794C>A	ENST00000520727.1	-	7	1431	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E378*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E328*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E378*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E390*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E378*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGCAGAGCTCGTCCAAGGCC	0.557000													7	99					8.12818e-05	8.60233e-05	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61011420	61011420	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:61011420G>T	ENST00000373867.3	-	14	1762	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	FAM13C_ENST00000419214.2_Missense_Mutation_p.H419N|FAM13C_ENST00000468840.2_Missense_Mutation_p.H434N|FAM13C_ENST00000277705.6_Missense_Mutation_p.H537N|FAM13C_ENST00000435852.2_Missense_Mutation_p.H517N|FAM13C_ENST00000442566.3_Missense_Mutation_p.H538N|FAM13C_ENST00000373868.2_Missense_Mutation_p.H517N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	517										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTCGGAGATGGTCAAGAAGT	0.403000													9	96					2.17888e-05	2.33517e-05	1	1	0
C5AR2	27202	broad.mit.edu	37	19	47844440	47844440	+	Silent	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:47844440C>G	ENST00000595464.1	+	2	602	c.384C>G	c.(382-384)ctC>ctG	p.L128L	C5AR2_ENST00000600626.1_Silent_p.L128L|C5AR2_ENST00000257267.2_Silent_p.L128L	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		TGGCAGCTCTCAGTGCCGACC	0.682000													28	103					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065156	9065156	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:9065156T>C	ENST00000397910.4	-	3	22493	c.22290A>G	c.(22288-22290)caA>caG	p.Q7430Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7432	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTTCACTTGGCCTGGTG	0.488000													18	44					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139696689	139696689	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr8:139696689G>A	ENST00000303045.6	-	39	3437	c.2991C>T	c.(2989-2991)ctC>ctT	p.L997L	COL22A1_ENST00000435777.1_Silent_p.L997L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	997	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGTCCAGGGAGTCCAGGTG	0.493000										HNSCC(7;0.00092)			22	166					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751319	151751319	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:151751319G>C	ENST00000368822.1	-	6	1358	c.725C>G	c.(724-726)tCt>tGt	p.S242C	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_Missense_Mutation_p.S18C|TDRKH_ENST00000458431.2_Missense_Mutation_p.S242C|TDRKH_ENST00000368823.1_Missense_Mutation_p.S238C|TDRKH_ENST00000368824.3_Missense_Mutation_p.S242C|TDRKH_ENST00000368825.3_Missense_Mutation_p.S197C|TDRKH_ENST00000368827.6_Missense_Mutation_p.S242C			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	242							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCTAGAACTGGTGTT	0.542000													17	100					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134074	22134074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:22134074C>T	ENST00000408935.1	+	1	778	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATCTATACTCGGCCAGACAC	0.512000													36	39					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431034	37431034	+	Silent	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr10:37431034T>G	ENST00000374660.1	+	7	1140	c.1041T>G	c.(1039-1041)tcT>tcG	p.S347S	ANKRD30A_ENST00000602533.1_Silent_p.S347S|ANKRD30A_ENST00000361713.1_Silent_p.S347S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAACATCTGAGAAATTTA	0.433000													21	79					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33247377	33247377	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr13:33247377G>C	ENST00000315596.10	+	8	916	c.730G>C	c.(730-732)Ggg>Cgg	p.G244R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	244					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTGATGCTTGGGAAAACATC	0.353000													18	55					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885489	60885489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr20:60885489C>G	ENST00000252999.3	-	76	10652	c.10586G>C	c.(10585-10587)gGa>gCa	p.G3529A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3529	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGATAACTCCCCCGCTGCC	0.692000													6	40					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28959121	28959121	+	Missense_Mutation	SNP	C	C	T	rs137937570		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr13:28959121C>T	ENST00000282397.4	-	14	2268	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	FLT1_ENST00000541932.1_Missense_Mutation_p.A673T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	673	Ig-like C2-type 7.				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)	CTGCTGATGGCCACTGTGTGA	0.448000													26	73					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496940	95496940	+	Silent	SNP	G	G	A	rs115743950	byFrequency	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr4:95496940G>A	ENST00000317968.4	+	5	601	c.465G>A	c.(463-465)gcG>gcA	p.A155A	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000542407.1_Silent_p.A33A|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000380180.3_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	155					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	p.A155A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CAGCCCATGCGACCACCTCAT	0.552000													8	172					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66108786	66108786	+	Silent	SNP	C	C	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:66108786C>A	ENST00000359957.3	-	4	409	c.249G>T	c.(247-249)ctG>ctT	p.L83L	BRMS1_ENST00000425825.2_Silent_p.L83L	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	83					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GCAGCTGACTCAGTCGTTCCC	0.597000													13	46					1.5842e-08	1.76485e-08	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175082	57175082	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:57175082C>T	ENST00000537055.2	-	2	1716	c.1485G>A	c.(1483-1485)acG>acA	p.T495T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTCTGCATGCGTCCTCTGGT	0.637000													64	126					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165848793	165848793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:165848793G>T	ENST00000366882.1	-	7	593	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	PDE10A_ENST00000539869.2_Missense_Mutation_p.Q157K|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q147K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	147	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGTGCCCTGAGTGATGGGC	0.483000													8	47					0.27861	0.27861	1	1	0
RGS21	431704	broad.mit.edu	37	1	192321331	192321331	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:192321331T>C	ENST00000417209.2	+	4	417	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	81	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTGAAGCTGATGCACCTAAAG	0.378000													21	19					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10608831	10608831	+	Silent	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:10608831G>A	ENST00000379774.4	+	2	679	c.588G>A	c.(586-588)ctG>ctA	p.L196L	ADPRM_ENST00000527582.2_Silent_p.L196L	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.L196L(1)|p.N197fs*1(1)									ATACGGAACTGAATAGTCCTC	0.383000													21	29					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869650	52869650	+	Missense_Mutation	SNP	C	C	T	rs149251185		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr19:52869650C>T	ENST00000601151.1	+	5	1342	c.890C>T	c.(889-891)gCg>gTg	p.A297V	ZNF610_ENST00000327920.8_Missense_Mutation_p.A340V|ZNF610_ENST00000321287.8_Missense_Mutation_p.A340V|ZNF610_ENST00000403906.3_Missense_Mutation_p.A340V	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCACACGGCGGAAAAACCT	0.393000													13	64					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866405	135866405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:135866405C>T	ENST00000339463.3	+	11	1780	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	GFI1B_ENST00000450530.1_Missense_Mutation_p.R321W|GFI1B_ENST00000372122.1_Missense_Mutation_p.R321W|GFI1B_ENST00000372124.1_Missense_Mutation_p.R275W|GFI1B_ENST00000372123.1_Missense_Mutation_p.R275W|GFI1B_ENST00000534944.1_Missense_Mutation_p.R275W			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	321	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R321W(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGACCTGCGGCGGCACCGCGA	0.652000													6	61					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305682	32305682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:32305682C>T	ENST00000357033.4	-	43	6460	c.6254G>A	c.(6253-6255)tGg>tAg	p.W2085*	DMD_ENST00000378677.2_Nonsense_Mutation_p.W2081*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2085					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTTCCCATTGGAAATC	0.398000													31	28					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771922	150771922	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr7:150771922T>A	ENST00000485713.1	+	19	4081	c.3041T>A	c.(3040-3042)aTc>aAc	p.I1014N	SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1014N|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I1000N|SLC4A2_ENST00000392826.2_Missense_Mutation_p.I1005N|SLC4A2_ENST00000310317.5_Missense_Mutation_p.I932N	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1014	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACACAGATCACCACGTGA	0.602000													13	8					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37157808	37157808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr5:37157808T>C	ENST00000274258.7	-	40	8202	c.4615A>G	c.(4615-4617)Act>Gct	p.T1539A	C5orf42_ENST00000508244.1_Missense_Mutation_p.T2641A|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2641A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2641										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACAGCATTAGTAACTGAAGCT	0.328000													15	68					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926266	172926266	+	Silent	SNP	C	C	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:172926266C>T	ENST00000315796.4	+	2	468	c.81C>T	c.(79-81)taC>taT	p.Y27Y		NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	27					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATCATATCTACTTACACAAGC	0.363000													14	189					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671570	112671570	+	Silent	SNP	T	T	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr6:112671570T>C	ENST00000441065.2	+	3	972	c.660T>C	c.(658-660)ttT>ttC	p.F220F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAATCCAGTTTTTTGATGTTG	0.458000													13	57					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973400	29973400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chrX:29973400T>G	ENST00000378993.1	+	11	2227	c.1554T>G	c.(1552-1554)atT>atG	p.I518M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I518M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	518	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGAGAGGAATTATGAACTACC	0.448000													27	17					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345347	5345347	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr11:5345347G>A	ENST00000328813.2	-	1	235	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTGAGGAAGTAGTAC	0.512000													14	94					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53746315	53746316	+	Frame_Shift_Ins	INS	-	-	A	rs146690956		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:53746315_53746316insA	ENST00000306052.6	-	4	540_541	c.439_440insT	c.(439-441)ctgfs	p.L147fs	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.L147fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	147	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCGTCGCAGCGCCACGAGGCA	0.614													12	42	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)aafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.520													7	1298	---	---	---	---					
ZNF804A	91752	broad.mit.edu	37	2	185801912	185801912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr2:185801912delA	ENST00000302277.6	+	4	2383	c.1789delA	c.(1789-1791)aafs	p.K598fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	598						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGAAGAAAGAAAAAAAGAAA	0.323													13	89	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr6:31597456_31597457insC	ENST00000376033.2	+	14	2322_2323	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	696	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649													8	58	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													3	4	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													4	6	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													3	6	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135251352	135251363	+	In_Frame_Del	DEL	GAGCCATGCATG	GAGCCATGCATG	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr9:135251352_135251363delGAGCCATGCATG	ENST00000334270.2	-	11	2696_2707	c.2657_2668delCATGCATGGCTC	c.(2656-2670)cac>c	p.PCMAH886del	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	886					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttacaggcgtgagccatgcatggcgcctggcc	0.509													15	16	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23451154	23451155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr14:23451154_23451155insG	ENST00000262713.2	-	1	696_697	c.321_322insC	c.(319-324)ccatttfs	p.F108fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.F108fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	108	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AGCCGAAAATCGGGGGGCAACG	0.718													10	8	---	---	---	---					
RPS27P27	100271585	broad.mit.edu	37	16	59122947	59122947	+	RNA	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr16:59122947delA	ENST00000500117.1	+	0	749																											CTACAGGAGGAAAGGCCAGCC	0.443													7	38	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	9e9c86a0-0085-45e5-87e2-5c729901b55c	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													8	35	---	---	---	---					
LRP8	7804	broad.mit.edu	37	1	53746315	53746316	+	Frame_Shift_Ins	INS	-	-	A	rs146690956		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr1:53746315_53746316insA	ENST00000306052.6	-	4	540_541	c.439_440insT	c.(439-441)ctgfs	p.L147fs	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.L147fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.L147fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	147	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCGTCGCAGCGCCACGAGGCA	0.614													12	42	---	---	---	---					
ZNF804A	91752	broad.mit.edu	37	2	185801912	185801912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr2:185801912delA	ENST00000302277.6	+	4	2383	c.1789delA	c.(1789-1791)aafs	p.K598fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	598						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGAAGAAAGAAAAAAAGAAA	0.323													13	89	---	---	---	---					
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													7	345	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135251352	135251363	+	In_Frame_Del	DEL	GAGCCATGCATG	GAGCCATGCATG	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr9:135251352_135251363delGAGCCATGCATG	ENST00000334270.2	-	11	2696_2707	c.2657_2668delCATGCATGGCTC	c.(2656-2670)cac>c	p.PCMAH886del	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	886					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttacaggcgtgagccatgcatggcgcctggcc	0.509													15	16	---	---	---	---					
AJUBA	84962	broad.mit.edu	37	14	23451154	23451155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:23451154_23451155insG	ENST00000262713.2	-	1	696_697	c.321_322insC	c.(319-324)ccatttfs	p.F108fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.F108fs|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	108	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										AGCCGAAAATCGGGGGGCAACG	0.718													10	8	---	---	---	---					
CTD-2540L5.5	0	broad.mit.edu	37	14	71067484	71067504	+	RNA	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000553982.1	-	0	294																											gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.710													4	3	---	---	---	---					
RPS27P27	100271585	broad.mit.edu	37	16	59122947	59122947	+	RNA	DEL	A	A	-			TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr16:59122947delA	ENST00000500117.1	+	0	749																											CTACAGGAGGAAAGGCCAGCC	0.443													7	38	---	---	---	---					
LRRC37BP1	147172	broad.mit.edu	37	17	28960991	28960992	+	RNA	INS	-	-	TT	rs10561703		TCGA-CV-7424-01A-11D-2078-08	TCGA-CV-7424-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76d5fc22-fd06-43f6-94a8-943a09db5fd6	8e0eb2fd-3232-45be-bd34-9a00cbf00836	g.chr17:28960991_28960992insTT	ENST00000417404.1	+	0	1269				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							tttcttttttcttttttttttt	0.302													7	14	---	---	---	---