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
RPRD2	23248	broad.mit.edu	37	1	150445317	150445317	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:150445317C>G	ENST00000401000.4	+	10	3880	c.3815C>G	c.(3814-3816)cCt>cGt	p.P1272R	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1298	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCCACCCCCTGTTGACCAC	0.607													3	9	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158646058	158646058	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158646058T>C	ENST00000368147.4	-	8	1165	c.985A>G	c.(985-987)Aag>Gag	p.K329E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTGTCAGCTTCTCTGCTTTA	0.498													72	99	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687669G>A	ENST00000368146.1	-	1	284	c.285C>T	c.(283-285)ccC>ccT	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453													40	74	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687670	158687670	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687670G>T	ENST00000368146.1	-	1	283	c.284C>A	c.(283-285)cCc>cAc	p.P95H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAGCATCTTGGGAATGGTGGC	0.453													40	77	---	---	---	---
APOB	338	broad.mit.edu	37	2	21233084	21233084	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:21233084C>T	ENST00000233242.1	-	26	6783	c.6656G>A	c.(6655-6657)cGt>cAt	p.R2219H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2219					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)	TAAATTTACACGGATATGATA	0.259													18	41	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929887	24929887	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:24929887C>G	ENST00000405141.1	+	14	2259	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	516	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACATTAAGCTCTCCCGTTG	0.418			T	PAX3	alveolar rhadomyosarcoma								27	45	---	---	---	---
C2orf61	285051	broad.mit.edu	37	2	47378575	47378575	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:47378575T>G	ENST00000294947.2	-	3	256	c.221A>C	c.(220-222)aAt>aCt	p.N74T	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	74								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTTAAAATTGTAGGTTGC	0.398													46	59	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103063627	103063627	+	Silent	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:103063627G>A	ENST00000264260.2	+	10	1759	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	IL18RAP_ENST00000409369.1_Silent_p.L248L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	390					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAATAGTGCTGCTGTACCGGA	0.577													65	73	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107563	168107563	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:168107563C>G	ENST00000409195.1	+	9	9750	c.9661C>G	c.(9661-9663)Ctt>Gtt	p.L3221V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3046					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCTGCAACACTTCGTCGTCA	0.453													26	30	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178482390	178482390	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:178482390G>A	ENST00000355689.5	-	1	1304	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGTCAAATGGGCATTTTCTGC	0.448													36	50	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190315668	190315668	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:190315668G>T	ENST00000314761.4	+	3	316	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	86						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAACTGTGGGACTATATAGA	0.284													20	57	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36779816	36779816	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:36779816G>A	ENST00000416516.2	-	2	825	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	112						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCCAGAGTGGCTTCCCTGGG	0.557													24	136	---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47437635	47437635	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:47437635T>C	ENST00000265562.4	+	2	164	c.87T>C	c.(85-87)ttT>ttC	p.F29F	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	29	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGTAGTTTGTCCTGAAGA	0.478													10	83	---	---	---	---
GLP1R	2740	broad.mit.edu	37	6	39046951	39046951	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:39046951A>C	ENST00000373256.4	+	10	1061	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	340					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGCCAATCTCATGTGCAAGAC	0.542													60	28	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43325471	43325471	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:43325471C>T	ENST00000361428.2	-	3	658	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	194					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGGAGCTTCGAGTGAAGAC	0.473													40	92	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42018254	42018254	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:42018254A>G	ENST00000395925.3	-	11	1675	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	531					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACCAACATATACTGGGCTTTG	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	128	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30699598	30699598	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr8:30699598T>C	ENST00000256246.2	-	1	7010	c.6936A>G	c.(6934-6936)cgA>cgG	p.R2312R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2312										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGTGCTCGGTCGTTTTTTAG	0.343													28	105	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6015581	6015581	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:6015581C>A	ENST00000259569.5	-	1	37	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	9					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGGTCGCCGGCACCCCTGCAG	0.577													19	34	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107564358	107564358	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:107564358T>C	ENST00000374736.3	-	34	5069	c.4675A>G	c.(4675-4677)Aag>Gag	p.K1559E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1559					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGTGTTTCTTCATTTGTTTG	0.423													4	49	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9990086	9990086	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:9990086G>T	ENST00000256190.8	-	14	1539	c.1402C>A	c.(1402-1404)Cca>Aca	p.P468T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	468					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAGGATTTGGATTCTCCTGT	0.448													30	52	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020567	5020567	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:5020567A>T	ENST00000382545.3	+	2	1130	c.23A>T	c.(22-24)aAc>aTc	p.N8I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	8					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTGGGGAGAACGTGGACGAG	0.731													8	18	---	---	---	---
LOC101927905	101927905	broad.mit.edu	37	12	8388294	8388294	+	RNA	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:8388294C>T	ENST00000304751.9	+	0	284				FAM86FP_ENST00000427893.2_RNA																							GAGATGATGGCTGTGCTCTCG	0.587													8	25	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994722	57994722	+	Silent	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57994722C>T	ENST00000354947.5	+	8	958	c.942C>T	c.(940-942)agC>agT	p.S314S	PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	314	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGACTGCAGCCTGACTGGAC	0.617													29	52	---	---	---	---
METAP2	10988	broad.mit.edu	37	12	95868032	95868032	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:95868032G>A	ENST00000323666.5	+	1	306	c.77G>A	c.(76-78)gGa>gAa	p.G26E	METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	26					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AGGGAAGAAGGAGCTGCCTCT	0.557													15	25	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37736347	37736347	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:37736347C>G	ENST00000327441.7	+	5	690	c.224C>G	c.(223-225)tCt>tGt	p.S75C	MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	75										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GATGATGAGTCTGTTTACTGC	0.423													14	16	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607													16	18	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2136230	2136230	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:2136230G>C	ENST00000219476.3	+	37	5329	c.4699G>C	c.(4699-4701)Ggc>Cgc	p.G1567R	TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1567	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAATGAGCATGGCTCCTACAG	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				16	17	---	---	---	---
CETP	1071	broad.mit.edu	37	16	57003576	57003576	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:57003576A>T	ENST00000200676.3	+	4	552	c.422A>T	c.(421-423)cAg>cTg	p.Q141L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	141					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATTGACCTCCAGATCAACACA	0.577													17	42	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18181563	18181563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:18181563T>A	ENST00000321105.5	-	18	2467	c.2253A>T	c.(2251-2253)agA>agT	p.R751S	TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	751					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCCCTGAAAATCTCAGGTCCA	0.622													21	30	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1050920	1050920	+	Splice_Site	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:1050920G>C	ENST00000263094.6	+	19	2784	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	851	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCCACAGGTCCATCTTGA	0.527													9	72	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19335210	19335210	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:19335210A>G	ENST00000252575.6	+	5	845	c.746A>G	c.(745-747)tAc>tGc	p.Y249C		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGGAACTCTACGATGTGTAT	0.587													21	25	---	---	---	---
ZNF146	7705	broad.mit.edu	37	19	36727583	36727583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:36727583T>C	ENST00000456324.1	+	3	1690	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	81					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAAAATCATTTAGCCAGAA	0.398													9	85	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50156102	50156102	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:50156102C>T	ENST00000360565.3	+	7	2580	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	819	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCAGGCTCTTCATCCTCG	0.662													9	8	---	---	---	---
KLK4	9622	broad.mit.edu	37	19	51412612	51412612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:51412612G>C	ENST00000324041.1	-	2	119	c.120C>G	c.(118-120)caC>caG	p.H40Q		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	40	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCTGCGAGTGCGGGCTGC	0.632													19	153	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996226	140996226	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chrX:140996226C>A	ENST00000285879.4	+	4	3322	c.3036C>A	c.(3034-3036)acC>acA	p.T1012T	MAGEC1_ENST00000406005.2_Silent_p.T79T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1012	MAGE.						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)					TAAAGGGCACCTATGCCTCTG	0.547										HNSCC(15;0.026)			50	7	---	---	---	---
APC	324	broad.mit.edu	37	5	112175225	112175231	+	Frame_Shift_Del	DEL	GGAACTA	GGAACTA	-			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr5:112175225_112175231delGGAACTA	ENST00000457016.1	+	16	4314_4320	c.3934_3940delGGAACTA	c.(3934-3942)ggaactaggfs	p.GTR1312fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAAGATTGGAACTAGGTCAGCTGA	0.430		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			14	9	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72933829	72933830	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:72933829_72933830delAA	ENST00000361138.5	+	15	2158_2159	c.2100_2101delAA	c.(2098-2103)agaaaafs	p.K701fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	701					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCTTGAGAGAAAAACCAAGAA	0.401													26	35	---	---	---	---
