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
SEC24A	10802	broad.mit.edu	37	5	134011728	134011728	+	Silent	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:134011728G>T	ENST00000398844.2	+	7	1455	c.1167G>T	c.(1165-1167)acG>acT	p.T389T	SEC24A_ENST00000322887.4_Silent_p.T389T	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	389					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGATGCACGCTGACTAGCA	0.353000													25	42					6.32553e-13	7.41942e-13	1	1	0
STX19	415117	broad.mit.edu	37	3	93733436	93733436	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:93733436T>C	ENST00000315099.2	-	2	934	c.678A>G	c.(676-678)atA>atG	p.I226M	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	226	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTAAATCCTTTATTTGGTTCT	0.318000													8	21					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102514	113102514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:113102514C>T	ENST00000316851.7	+	9	1207	c.1207C>T	c.(1207-1209)Caa>Taa	p.Q403*	NCAM1_ENST00000401611.2_Nonsense_Mutation_p.Q412*|NCAM1_ENST00000533760.1_Nonsense_Mutation_p.Q285*|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	413	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCTTGAAGTGCAATGTAAGGA	0.557000													8	55					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100663442	100663442	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:100663442T>C	ENST00000306151.4	+	1	90	c.26T>C	c.(25-27)cTg>cCg	p.L9P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	9						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCATGGCGCTGTGTCTGCTG	0.632000													14	17					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8470997	8470997	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:8470997C>T	ENST00000381196.4	-	28	4045	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	PTPRD_ENST00000397617.3_Missense_Mutation_p.E747K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E757K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1168K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1168K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E754K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E754K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1155K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1146K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E757K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E747K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1168					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACAGTTACCTCATCTAATTCC	0.428000										TSP Lung(15;0.13)			12	26					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753450	18753450	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:18753450C>A	ENST00000380548.4	+	16	2500	c.2161C>A	c.(2161-2163)Caa>Aaa	p.Q721K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	721	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGCACGGTGCAAGCTTGTAA	0.532000													5	14					0.000602214	0.000634767	1	1	0
MNDA	4332	broad.mit.edu	37	1	158817614	158817614	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:158817614G>A	ENST00000368141.4	+	6	1345	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	362	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TATCAAGTGTGAGAAAGGAGA	0.433000													7	81					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696058	111696058	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:111696058G>C	ENST00000435970.1	-	15	4082	c.3266C>G	c.(3265-3267)aCt>aGt	p.T1089S	REV3L_ENST00000368805.1_Missense_Mutation_p.T1167S|REV3L_ENST00000368802.3_Missense_Mutation_p.T1167S|REV3L_ENST00000358835.3_Missense_Mutation_p.T1167S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1167					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCGCGACTAGTTTTTCCTAT	0.363000								DNA polymerases (catalytic subunits)					44	52					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160245982	160245982	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:160245982C>T	ENST00000392783.2	-	21	3585	c.3090G>A	c.(3088-3090)ttG>ttA	p.L1030L	BAZ2B_ENST00000355831.2_Silent_p.L996L|BAZ2B_ENST00000343439.5_Silent_p.L930L|BAZ2B_ENST00000392782.1_Silent_p.L994L|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1030	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCTTGTTTCAACCGCTCTT	0.299000													4	47					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55883275	55883275	+	Missense_Mutation	SNP	C	C	G	rs146990953		TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:55883275C>G	ENST00000447944.2	-	17	1518	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	478					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCATTTGACTCTAGGACTTCA	0.313000													5	67					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7125375	7125375	+	Silent	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr19:7125375G>T	ENST00000341500.5	-	16	3180	c.3141C>A	c.(3139-3141)gtC>gtA	p.V1047V	INSR_ENST00000302850.5_Silent_p.V1059V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1059	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGACTCGTTGACCGTCTTCA	0.607000													12	42					7.03913e-09	7.8436e-09	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													5	58					0	0	1	0	0
EMC7	56851	broad.mit.edu	37	15	34380319	34380319	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr15:34380319G>C	ENST00000256545.4	-	4	619	c.511C>G	c.(511-513)Ctt>Gtt	p.L171V		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		AATAAAGGAAGAACCATCATC	0.353000													3	10					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316919	39316919	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr17:39316919C>T	ENST00000390661.3	-	1	64	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	9	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCAGAGCACACAGAGCCACAA	0.612000													28	21					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50129552	50129552	+	RNA	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:50129552C>G	ENST00000376025.2	-	0	2210							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGACATCGATCAGGACACTGA	0.478000													8	21					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818180	166818180	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:166818180G>A	ENST00000367875.1	+	5	724	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	POGK_ENST00000536514.1_Missense_Mutation_p.E37K|POGK_ENST00000537173.1_Missense_Mutation_p.E4K|POGK_ENST00000367876.4_Missense_Mutation_p.E122K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	122					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						CCCAGAAAATGAAGAATCTGA	0.448000													17	161					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42196350	42196350	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr20:42196350G>A	ENST00000373100.1	+	5	592	c.132G>A	c.(130-132)ggG>ggA	p.G44G	SGK2_ENST00000423407.3_Silent_p.G44G|SGK2_ENST00000373092.3_Silent_p.G44G|SGK2_ENST00000341458.4_Silent_p.G104G|SGK2_ENST00000426287.1_Silent_p.G70G|SGK2_ENST00000373077.1_Silent_p.G44G			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	104					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGGCAAAGGGAACTACGGGA	0.552000													16	38					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74483003	74483003	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:74483003G>A	ENST00000394019.2	-	13	1321	c.924C>T	c.(922-924)ctC>ctT	p.L308L	SLC4A5_ENST00000423644.1_Silent_p.L308L|SLC4A5_ENST00000346834.4_Silent_p.L308L|SLC4A5_ENST00000357822.5_Silent_p.L308L|SLC4A5_ENST00000359484.4_Silent_p.L244L|SLC4A5_ENST00000377634.4_Silent_p.L308L|SLC4A5_ENST00000358683.4_Silent_p.L244L|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.L308L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	308						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCGCCCACGAGCACGTTGG	0.582000													6	26					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464008	2464008	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr20:2464008C>A	ENST00000278772.4	-	6	2086	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TGAGGGTTGACTTGTCACAAA	0.498000													10	75					0.000673444	0.000700382	1	1	0
HIP1	3092	broad.mit.edu	37	7	75177109	75177109	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:75177109C>G	ENST00000336926.6	-	24	2435	c.2409G>C	c.(2407-2409)gaG>gaC	p.E803D	HIP1_ENST00000434438.2_Intron	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	803	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGAGCATCTCCTGTGAAA	0.473000			T	PDGFRB	CMML								35	119					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898393	75898393	+	Silent	SNP	T	T	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr13:75898393T>A	ENST00000377636.3	-	11	2524	c.2178A>T	c.(2176-2178)ccA>ccT	p.P726P	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.P726P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	726	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTTCATACTGTGGGGACAGTC	0.418000													11	46					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390189	107390189	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:107390189C>T	ENST00000429433.2	-	5	2855	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	BEND3_ENST00000369042.1_Missense_Mutation_p.V736M	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	736	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AAGTTGCCCACGGAGAGGCTC	0.627000													6	37					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969724	117969724	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:117969724G>A	ENST00000534111.1	+	3	327	c.62G>A	c.(61-63)cGt>cAt	p.R21H	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.R23H|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.R23H	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	23					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CGCAAACCCCGTATCCCCATG	0.532000													6	28					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131046893	131046893	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:131046893C>G	ENST00000419867.2	+	3	435	c.336C>G	c.(334-336)atC>atG	p.I112M	SWI5_ENST00000418976.1_Missense_Mutation_p.I72M|SWI5_ENST00000320188.5_Missense_Mutation_p.I177M|SWI5_ENST00000495313.1_Missense_Mutation_p.I81M|SWI5_ENST00000608796.1_Missense_Mutation_p.I112M			Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)						double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										ACAAGGAGATCTCCCAGTTCG	0.502000													9	42					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535709	69535709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:69535709C>A	ENST00000338206.5	-	1	637	c.628G>T	c.(628-630)Gag>Tag	p.E210*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	210					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTTATCCTCTCCATGAAAATC	0.338000													36	74					2.48696e-23	3.03098e-23	1	1	0
GMPR2	51292	broad.mit.edu	37	14	24702483	24702483	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr14:24702483G>A	ENST00000557854.1	+	1	355	c.78G>A	c.(76-78)gtG>gtA	p.V26V	GMPR2_ENST00000559104.1_Silent_p.V26V|GMPR2_ENST00000399440.2_Silent_p.V8V|GMPR2_ENST00000420554.2_Silent_p.V26V|GMPR2_ENST00000355299.4_Silent_p.V8V|GMPR2_ENST00000348719.7_Silent_p.V8V|GMPR2_ENST00000456667.3_Silent_p.V8V|GMPR2_ENST00000559910.1_Silent_p.V8V|GMPR2_ENST00000559836.1_Silent_p.V8V	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	8					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACAACGATGTGAAACTGGACT	0.512000													15	171					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618839	618839	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:618839G>A	ENST00000358353.3	-	14	2042	c.1720C>T	c.(1720-1722)Cca>Tca	p.P574S	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.P574S			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	574	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTGGCTCTGGGGTCTGTGCT	0.667000													25	98					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131348329	131348329	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:131348329C>A	ENST00000342983.2	-	3	1165	c.419G>T	c.(418-420)tGt>tTt	p.C140F	RAP2C_ENST00000370874.1_Missense_Mutation_p.C140F|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	140					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CATGAAAGGACAGCCCCATTC	0.443000													15	63					2.48551e-13	2.93742e-13	1	1	0
TRIM36	55521	broad.mit.edu	37	5	114472811	114472811	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:114472811C>T	ENST00000513154.1	-	7	1422	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	TRIM36_ENST00000514154.1_Missense_Mutation_p.A223T|TRIM36_ENST00000282369.3_Missense_Mutation_p.A378T			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	378	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GATTCTGTGGCTTTCTGTATT	0.318000													8	27					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393641	49393641	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr10:49393641C>T	ENST00000374201.3	-	18	2616	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E740K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E747K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	772					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.E772K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGTACAATTTCTCGGCCCGGT	0.493000													11	51					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107477	6107477	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:6107477G>A	ENST00000409021.3	-	3	796	c.347C>T	c.(346-348)aCg>aTg	p.T116M	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T116M|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T116M|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	116	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACGTTCAGCGTGGCCTGCAG	0.731000													4	13					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													3	34					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105718907	105718907	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr14:105718907A>T	ENST00000546474.1	-	5	15440	c.481T>A	c.(481-483)Tac>Aac	p.Y161N	BRF1_ENST00000327359.3_Missense_Mutation_p.Y46N|BRF1_ENST00000440513.3_Missense_Mutation_p.Y46N|BRF1_ENST00000379937.2_Missense_Mutation_p.Y134N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	161					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCAAGCACGTACACATTCACC	0.468000													3	11					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065458	51065458	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr22:51065458C>T	ENST00000547307.1	-	3	887	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	ARSA_ENST00000395621.3_Missense_Mutation_p.C163Y|ARSA_ENST00000453344.2_Missense_Mutation_p.C77Y|ARSA_ENST00000547805.1_Missense_Mutation_p.C161Y|ARSA_ENST00000216124.5_Missense_Mutation_p.C163Y|ARSA_ENST00000356098.5_Missense_Mutation_p.C163Y|ARSA_ENST00000395619.3_Missense_Mutation_p.C163Y			P15289	ARSA_HUMAN	arylsulfatase A	161						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CGGCGGGAAGCAGGTCAGGTT	0.711000													7	20					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318507	48318507	+	Silent	SNP	A	A	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:48318507A>G	ENST00000435803.1	+	18	7740	c.7716A>G	c.(7714-7716)gaA>gaG	p.E2572E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2572					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGTGAAAGAAATAGCTACTT	0.313000													4	59					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329746	20329746	+	Silent	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:20329746C>G	ENST00000302555.5	-	7	1163	c.1014G>C	c.(1012-1014)ctG>ctC	p.L338L	GP2_ENST00000381362.4_Silent_p.L341L|GP2_ENST00000381360.5_Silent_p.L194L|GP2_ENST00000341642.5_Silent_p.L191L|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	341	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTGACGTTCAGGGAACTGA	0.468000													14	112					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86028351	86028351	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:86028351C>T	ENST00000407528.2	+	8	1043	c.981C>T	c.(979-981)ccC>ccT	p.P327P	CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Silent_p.P329P	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	327	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTATCATCCCCTCCCTTACCA	0.418000													33	69					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573835	136573835	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:136573835C>G	ENST00000446465.2	+	2	1161	c.533C>G	c.(532-534)tCt>tGt	p.S178C	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.S178C	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	178	DUF6 1.					Golgi apparatus|integral to membrane											AATGTCATTTCTATCACTTGT	0.423000													4	148					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494463	134494463	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:134494463G>A	ENST00000339249.4	+	5	1159	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTACTGGGCATCAGAGA	0.448000													12	32					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889240	116889240	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr10:116889240C>T	ENST00000355044.3	+	5	898	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	ATRNL1_ENST00000527407.1_Missense_Mutation_p.H258Y|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	258						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTCCAGATCACGGTTACTG	0.403000													6	45					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450823	155450823	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:155450823C>T	ENST00000461783.3	+	6	1739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TIAM2_ENST00000318981.5_Missense_Mutation_p.R156C|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.R156C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R156C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R156C			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	156					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGCGAAGACCGCAAGAGCCC	0.577000													4	20					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39802868	39802868	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:39802868G>A	ENST00000564288.1	+	38	10857	c.10080G>A	c.(10078-10080)cgG>cgA	p.R3360R	MACF1_ENST00000289893.4_Silent_p.R1800R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Silent_p.R3365R|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.R3397R|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3365					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATTTACCCGGCAACTCTGTT	0.413000													4	273					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841370	100841370	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:100841370C>G	ENST00000369208.3	-	11	2345	c.1563G>C	c.(1561-1563)agG>agC	p.R521S	SIM1_ENST00000262901.4_Missense_Mutation_p.R521S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	521	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TACCATGGATCCTGTGGACTG	0.532000													18	46					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97017692	97017692	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:97017692A>T	ENST00000455200.1	+	7	1106	c.811A>T	c.(811-813)Act>Tct	p.T271S	NCAPH_ENST00000240423.4_Missense_Mutation_p.T282S|NCAPH_ENST00000427946.1_Missense_Mutation_p.T146S			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	282					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGATGTCCAGACTCTCTCCAC	0.483000													14	85					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537454	64537454	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:64537454C>G	ENST00000377390.3	-	5	798	c.461G>C	c.(460-462)gGg>gCg	p.G154A	SF1_ENST00000422298.2_Missense_Mutation_p.G39A|SF1_ENST00000377394.3_Missense_Mutation_p.G154A|SF1_ENST00000227503.9_Missense_Mutation_p.G154A|SF1_ENST00000433274.2_Missense_Mutation_p.G128A|SF1_ENST00000377387.1_Missense_Mutation_p.G279A|SF1_ENST00000334944.5_Missense_Mutation_p.G154A	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	154	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GATGAGCAGCCCCACAAAGTT	0.473000													41	9					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79170546	79170546	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr17:79170546C>T	ENST00000269392.4	-	15	2110	c.1863G>A	c.(1861-1863)gaG>gaA	p.E621E	AZI1_ENST00000450824.2_Silent_p.E618E|AZI1_ENST00000575907.1_Silent_p.E621E|AZI1_ENST00000374782.3_Silent_p.E618E	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	621					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCGTAGTGCTCCCTCTGCC	0.697000													5	0					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29552112	29552112	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr17:29552112G>T	ENST00000358273.4	+	17	2228		c.e17-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTTTTCTAGCAGGCAGATA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	25					9.16793e-09	1.01432e-08	1	1	0
GMPR2	51292	broad.mit.edu	37	14	24702478	24702478	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr14:24702478G>T	ENST00000557854.1	+	1	350	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	GMPR2_ENST00000559104.1_Missense_Mutation_p.D25Y|GMPR2_ENST00000399440.2_Missense_Mutation_p.D7Y|GMPR2_ENST00000420554.2_Missense_Mutation_p.D25Y|GMPR2_ENST00000355299.4_Missense_Mutation_p.D7Y|GMPR2_ENST00000348719.7_Missense_Mutation_p.D7Y|GMPR2_ENST00000456667.3_Missense_Mutation_p.D7Y|GMPR2_ENST00000559910.1_Missense_Mutation_p.D7Y|GMPR2_ENST00000559836.1_Missense_Mutation_p.D7Y	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	7					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TATTGACAACGATGTGAAACT	0.498000													15	165					2.32078e-09	2.60462e-09	1	1	0
FAM102A	399665	broad.mit.edu	37	9	130742380	130742380	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:130742380G>C	ENST00000373095.1	-	1	412	c.37C>G	c.(37-39)Caa>Gaa	p.Q13E		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	13										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						AAAGTAGTTTGGAATTTGAAT	0.517000													9	162					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196285	21196285	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:21196285C>A	ENST00000381541.3	+	7	810	c.745C>A	c.(745-747)Cct>Act	p.P249T	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.P249T|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.P202T																							CAGGATAACTCCTAAGGACTC	0.373000													17	110					3.51602e-12	4.06295e-12	1	1	0
ADAM28	10863	broad.mit.edu	37	8	24190240	24190240	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr8:24190240G>A	ENST00000265769.4	+	13	1459	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	ADAM28_ENST00000540823.1_Missense_Mutation_p.G217E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G197E|ADAM28_ENST00000437154.2_Missense_Mutation_p.G450E	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	450	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G450E(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTGCATTAGGAGAATGTTGT	0.264000													6	56					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115252336	115252336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:115252336G>A	ENST00000369535.4	-	4	557	c.304C>T	c.(304-306)Cga>Tga	p.R102*		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	102					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTTACTCGCTTAATCTGC	0.433000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			6	45					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	A	rs140646380	byFrequency	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:189875383G>A	ENST00000304636.3	+	50	4191	c.4021G>A	c.(4021-4023)Ggc>Agc	p.G1341S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTTTAGCTACGGCAATCCTGA	0.408000													15	67					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727453	50727453	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr22:50727453G>A	ENST00000449103.1	-	4	1327	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.T396M			O15031	PLXB2_HUMAN	plexin B2	396	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCGGCGACCGTCACGGCCGT	0.682000													9	23					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273697	210273697	+	Missense_Mutation	SNP	G	G	A	rs142853530	byFrequency	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:210273697G>A	ENST00000537238.1	+	7	1332	c.941G>A	c.(940-942)cGc>cAc	p.R314H	SYT14_ENST00000367019.1_Missense_Mutation_p.R352H|SYT14_ENST00000422431.1_Missense_Mutation_p.R397H|SYT14_ENST00000534859.1_Missense_Mutation_p.R352H|SYT14_ENST00000399639.2_Missense_Mutation_p.R352H|SYT14_ENST00000367015.1_Missense_Mutation_p.R314H|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000472886.1_Missense_Mutation_p.R352H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	352	C2 1.					integral to membrane		p.R352H(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GGTGTACATCGCATGAAAAAA	0.343000													14	62					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26866711	26866711	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr22:26866711G>A	ENST00000398145.2	-	7	1186	c.570C>T	c.(568-570)ctC>ctT	p.L190L	HPS4_ENST00000336873.5_Silent_p.L190L|HPS4_ENST00000398141.1_Silent_p.L185L|HPS4_ENST00000402105.3_Silent_p.L185L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	190					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCAGCCAGCGAGAATGTGAG	0.582000									Hermansky-Pudlak syndrome				6	25					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242186512	242186512	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:242186512G>A	ENST00000391975.1	-	15	2004	c.1777C>T	c.(1777-1779)Cac>Tac	p.H593Y	HDLBP_ENST00000391976.2_Missense_Mutation_p.H593Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.H593Y|HDLBP_ENST00000427183.2_Missense_Mutation_p.H560Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	593	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATATTCTTGTGAAACTGTTTG	0.418000													7	27					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													3	41					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123254823	123254823	+	Silent	SNP	A	A	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:123254823A>G	ENST00000264501.4	+	68	11878	c.11505A>G	c.(11503-11505)tcA>tcG	p.S3835S	KIAA1109_ENST00000388738.3_Silent_p.S3835S			Q2LD37	K1109_HUMAN	KIAA1109	3835					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCAAGATTCACCTTCAAAAA	0.338000													7	21					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551149	7551149	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:7551149C>T	ENST00000313599.3	-	7	1497	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G	CD163L1_ENST00000396630.1_Silent_p.G480G|CD163L1_ENST00000416109.2_Silent_p.G490G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	480	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGCTATGAGCCCCGACAAGCC	0.463000													6	31					0	0	1	0	0
SREK1IP1	285672	broad.mit.edu	37	5	64023984	64023984	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:64023984C>G	ENST00000513458.4	-	4	395	c.228G>C	c.(226-228)aaG>aaC	p.K76N		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	76	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						tttctttcttcttttcctctt	0.274000													6	18					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22021945	22021945	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr10:22021945C>T	ENST00000377072.3	+	19	2732	c.2384C>T	c.(2383-2385)tCa>tTa	p.S795L	MLLT10_ENST00000307729.7_Missense_Mutation_p.S779L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S779L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S779L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	795	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S779L(1)|p.S795L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCACAGCTTTCAGTGCCTTTT	0.358000			T	"""MLL, PICALM, CDK6"""	AL								15	47					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32582813	32582813	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:32582813G>A	ENST00000318709.4	+	2	375	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	AVL9_ENST00000409301.1_Missense_Mutation_p.E52K|AVL9_ENST00000404479.1_Missense_Mutation_p.E52K	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	52						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CACTTTACCTGAAGAATGGAA	0.453000													30	111					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42626499	42626499	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:42626499A>G	ENST00000372901.1	+	29	3437	c.3179A>G	c.(3178-3180)aAc>aGc	p.N1060S	UBR2_ENST00000372899.1_Missense_Mutation_p.N1060S|UBR2_ENST00000372883.3_Missense_Mutation_p.T568A			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1060					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTGATGAAAACAAAGAACTC	0.383000													26	29					0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	417715	417715	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:417715G>C	ENST00000199706.8	-	6	766	c.731C>G	c.(730-732)tCa>tGa	p.S244*	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Nonsense_Mutation_p.S244*	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	244					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CGCCGGCTCTGACAGTGCCTG	0.622000													9	25					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366034	109366034	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:109366034C>A	ENST00000370001.3	-	13	2393	c.2125G>T	c.(2125-2127)Gtc>Ttc	p.V709F	AKNAD1_ENST00000357393.4_Missense_Mutation_p.V416F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.V709F|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V679F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	709										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGGGGCTGGACAAAGGCACCT	0.388000													11	55					0.000673444	0.000700382	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37211102	37211102	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr19:37211102C>T	ENST00000585696.1	+	3	2613	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.L492L|ZNF567_ENST00000360729.4_Silent_p.L461L|ZNF567_ENST00000392163.2_Silent_p.L461L|ZNF567_ENST00000588311.1_Silent_p.L461L			Q8N184	ZN567_HUMAN	zinc finger protein 567	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATACCTCATTGATCATC	0.403000													13	76					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466043	24466043	+	Silent	SNP	G	G	A	rs147006375		TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr13:24466043G>A	ENST00000382137.3	-	3	455	c.387C>T	c.(385-387)gaC>gaT	p.D129D	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.D129D	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	129	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGGACCCACGTCACCCTTAT	0.637000													14	19					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231902891	231902891	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:231902891G>T	ENST00000439617.2	+	5	1327	c.1274G>T	c.(1273-1275)aGc>aTc	p.S425I	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.S425I|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.S425I|DISC1_ENST00000602873.1_Missense_Mutation_p.S75I|DISC1_ENST00000537876.1_Missense_Mutation_p.S425I|DISC1_ENST00000535983.1_Missense_Mutation_p.S425I|DISC1_ENST00000366633.3_Missense_Mutation_p.S425I|DISC1_ENST00000366636.4_Missense_Mutation_p.S425I	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	425	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TTAAGGGCCAGCGGAGATGAC	0.502000													37	52					1.30998e-17	1.58417e-17	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48919341	48919341	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr19:48919341C>A	ENST00000263269.3	+	7	1752	c.1664C>A	c.(1663-1665)cCc>cAc	p.P555H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	555						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TTCTCCGTCCCCTTCGTGGAG	0.652000													13	77					9.31168e-06	1.02297e-05	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638528	149638528	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:149638528C>T	ENST00000370401.2	+	4	993	c.683C>T	c.(682-684)tCa>tTa	p.S228L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.S228L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S203L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S203L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	228					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCAGATGTCACACTTGGAG	0.522000													27	82					0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149895517	149895517	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:149895517G>A	ENST00000271628.8	-	6	1776	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	398						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGAGGCCCCCGCTGGTAGCCA	0.642000													3	1					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700903	13700903	+	Silent	SNP	G	G	A	rs151080414	byFrequency	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:13700903G>A	ENST00000265104.4	-	78	13673	c.13569C>T	c.(13567-13569)gaC>gaT	p.D4523D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4523					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)					CAGAAATGTCGTCCTTCATCC	0.468000									Kartagener syndrome				19	115					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17352858	17352858	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:17352858G>A	ENST00000261381.6	-	3	984	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	300					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAGGGGGCAGAACCGAGTCA	0.612000													5	24					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193053752	193053752	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:193053752C>T	ENST00000432079.1	+	8	1251	c.683C>T	c.(682-684)tCa>tTa	p.S228L	TROVE2_ENST00000367446.3_Missense_Mutation_p.S503L|TROVE2_ENST00000367443.1_Missense_Mutation_p.S503L|TROVE2_ENST00000367444.3_Missense_Mutation_p.S503L|TROVE2_ENST00000400968.2_Missense_Mutation_p.S503L|TROVE2_ENST00000367441.1_Missense_Mutation_p.S503L|TROVE2_ENST00000416058.2_Missense_Mutation_p.S228L|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.S503L			P10155	RO60_HUMAN	TROVE domain family, member 2	503	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GGAATGACATCAAATGGTTTC	0.338000													5	74					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227965	149227965	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:149227965C>T	ENST00000407073.1	+	9	3450	c.2453C>T	c.(2452-2454)aCg>aTg	p.T818M	MBD5_ENST00000404807.1_Missense_Mutation_p.T818M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	818						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGAATTTCAACGTCCTCCACT	0.433000													4	60					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99795330	99795330	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:99795330G>T	ENST00000259470.5	-	8	1155	c.906C>A	c.(904-906)agC>agA	p.S302R	CTSV_ENST00000538255.1_Splice_Site_p.S302R	NM_001333.3	NP_001324.2			cathepsin V									p.S302R(1)									CTGGACCCCAGCTGAAAGAGG	0.438000													9	90					2.52707e-12	2.94196e-12	1	1	0
AGO2	27161	broad.mit.edu	37	8	141582961	141582961	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr8:141582961C>T	ENST00000220592.5	-	3	398	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Missense_Mutation_p.G96S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TTCTTCCTGCCGTCAAACACG	0.502000													12	75					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132403819	132403819	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:132403819G>A	ENST00000321867.4	+	24	2925	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	ULK1_ENST00000540647.1_Silent_p.L103L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	858					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCACGTCCTGGAGATCGCAG	0.682000													10	7					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346954	48346954	+	Silent	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:48346954C>G	ENST00000319856.4	+	1	483	c.462C>G	c.(460-462)ccC>ccG	p.P154P		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCTGTAAGCCCCTGCACAATA	0.527000													6	106					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37708184	37708184	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr22:37708184G>A	ENST00000248901.6	+	12	1268	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	361	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CACCAGTGCCGAGGAACGTGA	0.612000													8	30					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66469126	66469126	+	Silent	SNP	G	G	T	rs144636685		TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:66469126G>T	ENST00000533211.1	-	16	3076	c.2745C>A	c.(2743-2745)gcC>gcA	p.A915A	SPTBN2_ENST00000309996.2_Silent_p.A915A|SPTBN2_ENST00000529997.1_Silent_p.A915A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	915					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A915A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTAACTGCTCGGCAATGTCAT	0.572000													49	41					6.34439e-16	7.61327e-16	1	1	0
PAM	5066	broad.mit.edu	37	5	102309957	102309957	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:102309957G>A	ENST00000438793.3	+	14	1770	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	PAM_ENST00000348126.2_Intron|PAM_ENST00000346918.2_Missense_Mutation_p.D434N|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.D434N|PAM_ENST00000274392.9_Missense_Mutation_p.D337N|PAM_ENST00000455264.2_Missense_Mutation_p.D434N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	434	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.D434H(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CCAAAAAAAGGATCTTGGTCG	0.418000													26	36					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													5	58					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316624	203316624	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:203316624C>T	ENST00000354955.4	-	2	1238	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	259					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTATCGGGGACGGTGTAGACA	0.557000													21	96					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662915	117662915	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:117662915G>A	ENST00000317775.6	-	25	4417	c.3732C>T	c.(3730-3732)aaC>aaT	p.N1244N	NOS1_ENST00000338101.4_Silent_p.N1278N|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1244					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGACTTGGGGGTTCCGGGGCA	0.542000													12	98					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180780546	180780546	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:180780546G>A	ENST00000367590.4	+	7	883	c.685G>A	c.(685-687)Gca>Aca	p.A229T	XPR1_ENST00000367589.3_Missense_Mutation_p.A229T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	229						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCCACAGCCTGCACCAGCATG	0.343000													55	55					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30510745	30510745	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:30510745G>T	ENST00000356798.6	+	17	2260	c.2080G>T	c.(2080-2082)Gaa>Taa	p.E694*	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E611*|ITGAL_ENST00000433423.2_Nonsense_Mutation_p.E90*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	694					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGGGAGACATGAACTCAGAAG	0.567000													18	65					0.00074312	0.000767727	1	1	0
HPS4	89781	broad.mit.edu	37	22	26860540	26860540	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr22:26860540G>A	ENST00000398145.2	-	11	1672	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	HPS4_ENST00000336873.5_Silent_p.L352L|HPS4_ENST00000398141.1_Silent_p.L365L|HPS4_ENST00000402105.3_Silent_p.L347L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	352					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGAGGAGCTGAGGCCAAGAA	0.552000									Hermansky-Pudlak syndrome				6	40					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627481	170627481	+	Missense_Mutation	SNP	G	G	A	rs146980569		TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr6:170627481G>A	ENST00000476287.1	+	2	1111	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	FAM120B_ENST00000537664.1_Missense_Mutation_p.A358T|FAM120B_ENST00000540480.1_Missense_Mutation_p.A347T|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	335					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGTTCAGACGCCGAATCCAG	0.448000													53	64					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227923175	227923175	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:227923175T>C	ENST00000366759.4	+	1	479	c.65T>C	c.(64-66)cTc>cCc	p.L22P	SNAP47_ENST00000315781.5_Missense_Mutation_p.L22P|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	22						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGCGGTCGGCTCTGGGACTCG	0.761000													3	2					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812837	62812837	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:62812837C>G	ENST00000512091.2	+	15	3168	c.2421C>G	c.(2419-2421)atC>atG	p.I807M	LPHN3_ENST00000504896.1_Missense_Mutation_p.I807M|LPHN3_ENST00000511324.1_Missense_Mutation_p.I875M|LPHN3_ENST00000514157.1_Missense_Mutation_p.I807M|LPHN3_ENST00000507164.1_Missense_Mutation_p.I875M|LPHN3_ENST00000508693.1_Missense_Mutation_p.I875M|LPHN3_ENST00000508946.1_Missense_Mutation_p.I807M|LPHN3_ENST00000507625.1_Missense_Mutation_p.I875M|LPHN3_ENST00000506720.1_Missense_Mutation_p.I875M|LPHN3_ENST00000509896.1_Missense_Mutation_p.I875M|LPHN3_ENST00000514996.1_Missense_Mutation_p.I807M|LPHN3_ENST00000506746.1_Missense_Mutation_p.I875M|LPHN3_ENST00000545650.1_Missense_Mutation_p.I807M|LPHN3_ENST00000506700.1_Missense_Mutation_p.I807M|LPHN3_ENST00000514591.1_Missense_Mutation_p.I807M			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTAAACATATCAAGGTAAGAA	0.294000													6	16					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16253924	16253924	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr20:16253924C>G	ENST00000354981.2	-	26	4085	c.3928G>C	c.(3928-3930)Gac>Cac	p.D1310H	KIF16B_ENST00000378003.2_Missense_Mutation_p.D495H|KIF16B_ENST00000355755.3_Missense_Mutation_p.D1280H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1310					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGCTGTAGTCAAAGACTCCT	0.557000													6	51					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823613	156823613	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:156823613G>A	ENST00000368195.3	-	2	964	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	190					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGGCACAGGGCTCACCAGCA	0.622000													4	31					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99374130	99374130	+	Silent	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr13:99374130C>G	ENST00000376503.5	-	6	448	c.393G>C	c.(391-393)ctG>ctC	p.L131L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	131					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CGAGAGCTATCAGGGCCAGGC	0.572000													6	67					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679356	219679356	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:219679356G>C	ENST00000258415.4	+	8	1779	c.1352G>C	c.(1351-1353)aGa>aCa	p.R451T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	451					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGCTGGCTGAGAAACAGCCAG	0.607000													4	41					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631204	140631204	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr8:140631204T>A	ENST00000520439.1	-	2	485	c.422A>T	c.(421-423)aAg>aTg	p.K141M	KCNK9_ENST00000303015.1_Missense_Mutation_p.K141M	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	141						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTTAATGCGCTTCAGCAGGTA	0.582000													8	22					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81209296	81209296	+	RNA	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:81209296C>T	ENST00000527937.1	-	0	378				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCTCCTCTCCAAGTGGC	0.547000													25	23					0	0	1	0	0
C16orf91	283951	broad.mit.edu	37	16	1470199	1470199	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:1470199G>C	ENST00000310355.1	-	5	815	c.816C>G	c.(814-816)ttC>ttG	p.F272L	C16orf91_ENST00000563974.1_3'UTR|C16orf91_ENST00000442039.2_3'UTR			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CATCAAATCCGAAGGGCGGCT	0.607000													3	42					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222622	140222622	+	Silent	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:140222622C>A	ENST00000531613.1	+	1	1716	c.1716C>A	c.(1714-1716)ggC>ggA	p.G572G	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.G572G|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGTGGCACTGGTGGCG	0.701000													12	64					4.36969e-10	5.01229e-10	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6588265	6588265	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:6588265G>C	ENST00000254579.6	+	36	12090	c.11526G>C	c.(11524-11526)caG>caC	p.Q3842H	DNHD1_ENST00000527990.2_Missense_Mutation_p.Q3842H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3842					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGAAACTACAGGAGATGGTAT	0.517000													3	35					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39765930	39765930	+	Missense_Mutation	SNP	G	G	A	rs140369443	by1000genomes	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:39765930G>A	ENST00000564288.1	+	22	3307	c.2530G>A	c.(2530-2532)Gtt>Att	p.V844I	MACF1_ENST00000545844.1_Missense_Mutation_p.V849I|MACF1_ENST00000317713.7_Missense_Mutation_p.V849I|MACF1_ENST00000372915.3_Missense_Mutation_p.V849I|MACF1_ENST00000539005.1_Missense_Mutation_p.V849I|MACF1_ENST00000567887.1_Missense_Mutation_p.V881I|MACF1_ENST00000361689.2_Missense_Mutation_p.V849I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	849					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCAGTCTCGTTGGGAGATC	0.428000													28	121					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103480069	103480069	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:103480069G>A	ENST00000358392.2	-	13	1923	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	COL11A1_ENST00000512756.1_Missense_Mutation_p.R408W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R485W|COL11A1_ENST00000370096.3_Missense_Mutation_p.R524W	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	524	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCTTACCCGAGCCTGCTGA	0.418000													10	21					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796493	78796493	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:78796493C>T	ENST00000545128.1	+	16	2721	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	PCSK5_ENST00000376752.4_Missense_Mutation_p.S728L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	728	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCTGATGGGTCATATCAGGAT	0.438000													43	71					0	0	1	0	0
PDCD6	10016	broad.mit.edu	37	5	272837	272837	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:272837A>T	ENST00000509581.1	+	2	177	c.113A>T	c.(112-114)gAc>gTc	p.D38V	PDCD6_ENST00000264933.4_Missense_Mutation_p.D38V|PDCD6_ENST00000507528.1_Missense_Mutation_p.D38V|PDCD6_ENST00000505221.1_Missense_Mutation_p.D38V			O75340	PDCD6_HUMAN	programmed cell death 6	38	EF-hand 1.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GTCGATAAAGACAGGAGTGGA	0.517000													9	23					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605792	77605792	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr14:77605792C>A	ENST00000319374.4	-	2	492	c.290G>T	c.(289-291)tGc>tTc	p.C97F	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	97						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GCACACTCGGCAGAAGTGGGT	0.607000													5	13					3.59834e-05	3.8982e-05	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21640753	21640753	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:21640753G>C	ENST00000328843.6	+	17	3412	c.3381G>C	c.(3379-3381)tgG>tgC	p.W1127C	DNAH11_ENST00000409508.3_Missense_Mutation_p.W1127C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1127	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W1127*(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAAGAAATGGAGCTGGATGT	0.348000									Kartagener syndrome				3	38					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	G	rs114601020	by1000genomes	TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:60139745C>G	ENST00000371218.4	+	15	1708	c.1524C>G	c.(1522-1524)tcC>tcG	p.S508S	FGGY_ENST00000371212.1_Silent_p.S396S|FGGY_ENST00000303721.7_Silent_p.S484S|FGGY_ENST00000371210.1_Silent_p.S185S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612000													5	18					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180914	168180914	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:168180914G>T	ENST00000519560.1	-	17	2203	c.1784C>A	c.(1783-1785)aCc>aAc	p.T595N	SLIT3_ENST00000404867.3_Missense_Mutation_p.T595N|SLIT3_ENST00000332966.8_Missense_Mutation_p.T595N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	595					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGTGCACGGTCTCCAGCTG	0.612000													9	15					0.000442599	0.000472914	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94962945	94962945	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr14:94962945T>C	ENST00000341228.2	-	4	1465	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K224E	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	224					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCTTCCTCTTTAGTTACATTT	0.398000													17	33					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793788	114793788	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:114793788C>T	ENST00000310346.4	-	9	1772	c.1106G>A	c.(1105-1107)aGg>aAg	p.R369K	TBX5_ENST00000405440.2_Missense_Mutation_p.R369K|TBX5_ENST00000349716.5_Missense_Mutation_p.R319K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	369					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CGACTCTGTCCTGTAGGAGGC	0.587000													18	48					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3808023	3808023	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:3808023G>A	ENST00000262367.5	-	18	4205	c.3396C>T	c.(3394-3396)ccC>ccT	p.P1132P	CREBBP_ENST00000382070.3_Silent_p.P1094P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1132	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGGTCCATGGGATTCTTTA	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	57					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278527	50278527	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr18:50278527C>T	ENST00000442544.2	+	2	811	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	65	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S65S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGCGGAGTCCGACCGAGGAG	0.507000													3	31					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97731229	97731229	+	RNA	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:97731229C>A	ENST00000472788.1	-	0	490					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GTACGCGCAGCATGATATTCT	0.458000													3	22					0.150653	0.151625	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33222947	33222947	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr13:33222947T>A	ENST00000315596.10	+	2	224	c.38T>A	c.(37-39)aTt>aAt	p.I13N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	13					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)		GATGGAAAAATTACATATCCG	0.328000													14	42					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135025326	135025326	+	Silent	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr10:135025326C>G	ENST00000304613.3	+	23	4221	c.4200C>G	c.(4198-4200)ctC>ctG	p.L1400L	KNDC1_ENST00000368572.2_Silent_p.L1402L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1400					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAACGCCCTCTGTAAGAGGC	0.667000													3	14					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815539	158815539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:158815539C>T	ENST00000368141.4	+	5	994	c.733C>T	c.(733-735)Caa>Taa	p.Q245*		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	245	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGTAAGACTCAATATTTCCA	0.388000													9	75					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149632	34149632	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:34149632C>T	ENST00000346193.3	-	1	815	c.764G>A	c.(763-765)cGt>cAt	p.R255H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	255										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGATCTCCGACGAGTGATGGG	0.622000													24	8					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179365817	179365817	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:179365817C>T	ENST00000234453.5	+	7	1091	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GAACCAGTATCTACACTTCAC	0.383000													10	74					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497234	134497234	+	Silent	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:134497234G>T	ENST00000372195.1	-	11	2097	c.1854C>A	c.(1852-1854)tcC>tcA	p.S618S	RAPGEF1_ENST00000372189.3_Silent_p.S601S|RAPGEF1_ENST00000372190.3_Silent_p.S619S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	601					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTCCTGCACGGAGTCCACCC	0.597000													6	24					0.00116845	0.00119136	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29608247	29608247	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr12:29608247G>A	ENST00000318184.5	-	20	2371	c.2372C>T	c.(2371-2373)cCa>cTa	p.P791L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	791	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGGCTTCCATGGCTGGACACA	0.443000													4	58					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671410	77671410	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:77671410C>A	ENST00000461745.1	+	23	4487	c.3587C>A	c.(3586-3588)cCt>cAt	p.P1196H	ROBO2_ENST00000487694.3_Missense_Mutation_p.P1212H|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1196H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1196					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTCCACAGCCTCCAGTTCCA	0.368000													14	37					6.81908e-15	8.12043e-15	1	1	0
CRYBG3	131544	broad.mit.edu	37	3	97662093	97662093	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:97662093C>G	ENST00000182096.4	+	19	3068	c.3004C>G	c.(3004-3006)Cat>Gat	p.H1002D	CRYBG3_ENST00000389622.2_Missense_Mutation_p.H209D|CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGACAAGACTCATGTAATTGT	0.358000													5	24					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809791	31809791	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr10:31809791G>A	ENST00000446923.2	+	7	1871	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZEB1_ENST00000361642.5_Missense_Mutation_p.E511K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E443K|ZEB1_ENST00000320985.10_Missense_Mutation_p.E510K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E490K|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	510					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGTTACCAGAAGATCTTAC	0.388000													6	91					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748264	43748264	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr15:43748264G>C	ENST00000263801.3	-	12	2779	c.2527C>G	c.(2527-2529)Cct>Gct	p.P843A	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P848A|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P848A|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P848A	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	843					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTCTTAAAGGATCATCTGCT	0.418000								Other conserved DNA damage response genes					23	64					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747866	41747866	+	Silent	SNP	G	G	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:41747866G>T	ENST00000226382.2	-	3	1262	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	301					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGGCACCGTTGGGTCTTTGGA	0.687000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	11					0.004672	0.00473268	1	1	0
WSCD1	23302	broad.mit.edu	37	17	5993727	5993727	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr17:5993727G>C	ENST00000574946.1	+	4	1019	c.629G>C	c.(628-630)tGt>tCt	p.C210S	WSCD1_ENST00000573634.1_Missense_Mutation_p.C94S|WSCD1_ENST00000574232.1_Missense_Mutation_p.C210S|WSCD1_ENST00000539421.1_Missense_Mutation_p.C210S|WSCD1_ENST00000317744.5_Missense_Mutation_p.C210S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	210	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTGGAAGAGTGTAACCATGAG	0.662000													7	22					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628084	26628084	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr8:26628084C>T	ENST00000380573.3	-	3	2006	c.983G>A	c.(982-984)tGc>tAc	p.C328Y	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.C328Y|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.C328Y|ADRA1A_ENST00000380582.3_Missense_Mutation_p.C328Y|ADRA1A_ENST00000519229.1_Missense_Mutation_p.C328Y|ADRA1A_ENST00000380586.1_Missense_Mutation_p.C328Y			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	328					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TTGGCTGGAGCATGGGTATAT	0.453000													90	46					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725110	26725110	+	Silent	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr11:26725110G>A	ENST00000396005.3	-	6	1098	c.789C>T	c.(787-789)tgC>tgT	p.C263C	SLC5A12_ENST00000280467.6_Silent_p.C263C	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	263					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCAAGAGATGCATCGCTGAA	0.358000													19	85					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176149	207176149	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr2:207176149C>T	ENST00000374423.3	+	5	7283	c.6897C>T	c.(6895-6897)tgC>tgT	p.C2299C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2299							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGGCTTCTTGCCGCGTTGCAA	0.507000													3	11					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38774321	38774321	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr19:38774321G>C	ENST00000301244.7	+	2	596	c.161G>C	c.(160-162)tGg>tCg	p.W54S	SPINT2_ENST00000587090.1_Missense_Mutation_p.W4S|SPINT2_ENST00000454580.3_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	54	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGCCTAGGTGGTGGTACAAT	0.557000													31	100					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417053	78417053	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:78417053G>A	ENST00000274353.5	+	5	597	c.490G>A	c.(490-492)Gtt>Att	p.V164I	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	164	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TTTTGAACACGTTGAAGAAGC	0.418000													19	79					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89910681	89910681	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr5:89910681C>A	ENST00000405460.2	+	2	148	c.52C>A	c.(52-54)Ctt>Att	p.L18I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	18					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)		ATTAGTAAATCTTCTTTCAGC	0.274000													5	26					0.00116845	0.00119136	1	1	0
CLRN1	7401	broad.mit.edu	37	3	150690271	150690271	+	Silent	SNP	C	C	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr3:150690271C>T	ENST00000327047.1	-	1	515	c.225G>A	c.(223-225)ggG>ggA	p.G75G	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.G75G	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	75					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGCTCCCAACCCACACTGCC	0.498000													15	32					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174418101	174418104	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr1:174418101_174418104delCTTT	ENST00000367685.2	+	1	890_893	c.852_855delCTTT	c.(850-855)tactttfs	p.YF284fs	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	284						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ATATAATTTACTTTCTTCTAGAAA	0.426													20	187	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729													2	4	---	---	---	---					
ASNS	440	broad.mit.edu	37	7	97482681	97482681	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr7:97482681delG	ENST00000175506.4	-	12	1784	c.1256delC	c.(1255-1257)ccafs	p.P419fs	ASNS_ENST00000455086.1_Frame_Shift_Del_p.P336fs|ASNS_ENST00000394308.3_Frame_Shift_Del_p.P419fs|ASNS_ENST00000422745.1_Frame_Shift_Del_p.P398fs|ASNS_ENST00000437628.1_Frame_Shift_Del_p.P336fs|ASNS_ENST00000394309.3_Frame_Shift_Del_p.P419fs|ASNS_ENST00000444334.1_Frame_Shift_Del_p.P398fs	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	419	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCTAGAAATGGGACTCTCAG	0.373													7	59	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	6	---	---	---	---					
RXRA	6256	broad.mit.edu	37	9	137293678	137293679	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:137293678_137293679insT	ENST00000481739.1	+	2	281_282	c.229_230insT	c.(229-231)atgfs	p.M77fs	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	77	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCCCCACTCCATGTCGGTGCCC	0.703													13	69	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139720247	139720247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr9:139720247delG	ENST00000371663.4	+	3	557	c.282delG	c.(280-282)gtgfs	p.V94fs	RABL6_ENST00000311502.7_Frame_Shift_Del_p.V94fs|RABL6_ENST00000357466.2_Frame_Shift_Del_p.V94fs|RABL6_ENST00000371675.3_5'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000432842.2_Frame_Shift_Del_p.V56fs|RABL6_ENST00000371671.4_Frame_Shift_Del_p.V94fs	NM_001173988.1|NM_024718.4	NP_001167459.1|NP_078994.3			RAB, member RAS oncogene family-like 6																		ATGACATCGTGAAGGTTGAAG	0.517													97	133	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24950887	24950887	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr16:24950887delG	ENST00000289968.6	-	17	1591	c.1522delC	c.(1522-1524)cacfs	p.H508fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	508					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCCCGCCGGTGGGCCTGGAAG	0.577													2	4	---	---	---	---					
JAK3	3718	broad.mit.edu	37	19	17953278	17953278	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chr19:17953278delG	ENST00000458235.1	-	6	807	c.708delC	c.(706-708)gccfs	p.A236fs	JAK3_ENST00000527670.1_Frame_Shift_Del_p.A236fs|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Frame_Shift_Del_p.A236fs	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	236	FERM.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGTACTTGGCCATGAGCG	0.716		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44966757	44966757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4Z-AA82-01A-11D-A391-08	TCGA-4Z-AA82-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb5d6516-bb61-449f-b9cd-728991705831	bc7faa65-35d3-4c4c-a0bd-700918a564cd	g.chrX:44966757delA	ENST00000377967.4	+	27	4022	c.3981delA	c.(3979-3981)ccafs	p.P1327fs	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1248fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1334fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1282fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1327					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGAAGAACCAGCTCATTACT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								38	8	---	---	---	---