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
RPE65	6121	broad.mit.edu	37	1	68904666	68904666	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:68904666T>A	uc001dei.1	-	8	1011	c.957A>T	c.(955-957)gaA>gaT	p.E319D		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	319					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCCATTGTCTTCATAGGTGT	0.413												
SLC39A1	27173	broad.mit.edu	37	1	153933124	153933124	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:153933124A>G	uc001fdl.3	-	4	891	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.3_Missense_Mutation_p.L142P|SLC39A1_uc010pee.2_Missense_Mutation_p.L40P	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	142						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGTTTCCTCCAGAGGTGACGG	0.607												
APBB1	322	broad.mit.edu	37	11	6432089	6432089	+	Missense_Mutation	SNP	A	A	C	rs150119080	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:6432089A>C	uc001mdb.1	-	1	589	c.489T>G	c.(487-489)gaT>gaG	p.D163E	APBB1_uc001mdc.1_Missense_Mutation_p.D163E|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	163	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162K(1)|p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcatcctcctcct	0.637												
MS4A6A	64231	broad.mit.edu	37	11	59947358	59947358	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:59947358G>A	uc010rla.2	-	3	785	c.312C>T	c.(310-312)acC>acT	p.T104T	MS4A6A_uc001noq.3_Silent_p.T76T|MS4A6A_uc009ymv.3_Silent_p.T76T|MS4A6A_uc001not.3_Silent_p.T76T|MS4A6A_uc010rlb.2_Intron	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	76						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468												
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:102822797C>T	uc001phl.3	-	4	772	c.743G>A	c.(742-744)gGc>gAc	p.G248D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	248					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G248D(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGGCTTTTGCCGGTGTAGGT	0.448												
USP28	57646	broad.mit.edu	37	11	113688486	113688486	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:113688486T>C	uc001poh.3	-	12	1390	c.1357A>G	c.(1357-1359)Agt>Ggt	p.S453G	USP28_uc001pog.3_Missense_Mutation_p.S161G|USP28_uc010rwy.2_Missense_Mutation_p.S328G|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	453					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTGTACTAGCAAATTCA	0.463												
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:7559406C>T	uc010sge.2	-	4	865	c.839G>A	c.(838-840)cGc>cAc	p.R280H	CD163L1_uc001qsy.3_Missense_Mutation_p.R270H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	270	SRCR 3.					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						CCCCATACAGCGGTTAGTTCC	0.448												
TRPV4	59341	broad.mit.edu	37	12	110236625	110236625	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:110236625G>A	uc001tpj.2	-	4	1041	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRPV4_uc001tpg.2_Missense_Mutation_p.R282C|TRPV4_uc021rdp.1_Missense_Mutation_p.R316C|TRPV4_uc001tph.2_Missense_Mutation_p.R269C|TRPV4_uc001tpi.2_Missense_Mutation_p.R269C|TRPV4_uc001tpk.2_Missense_Mutation_p.R316C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	316			R -> C (in CMT2C and SPSMA).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGTCCTGGCGCCGCATGTCC	0.612												
AACS	65985	broad.mit.edu	37	12	125599073	125599073	+	Silent	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:125599073C>A	uc001uhc.3	+	8	1172	c.966C>A	c.(964-966)acC>acA	p.T322T	AACS_uc001uhd.3_Silent_p.T322T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	322					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAACATGACCAGCAGTGACA	0.607												
IPO5	3843	broad.mit.edu	37	13	98666352	98666352	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:98666352C>T	uc001vne.3	+	21	2443	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	737					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGCAAGAGTCCGTGGTCCTGA	0.438												
F10	2159	broad.mit.edu	37	13	113793675	113793675	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:113793675C>T	uc001vsx.3	+	3	318	c.261C>T	c.(259-261)ggC>ggT	p.G87G	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G87G	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	87	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAGATGGCGACCAGTGTG	0.502												
SLC7A7	9056	broad.mit.edu	37	14	23245049	23245049	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:23245049C>T	uc001wgr.4	-	5	1129	c.991G>A	c.(991-993)Gct>Act	p.A331T	SLC7A7_uc001wgs.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.4_Missense_Mutation_p.A331T	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	331					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TACCTAGAAGCAGCCACAATG	0.428												
NFKBIA	4792	broad.mit.edu	37	14	35871759	35871759	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:35871759C>A	uc001wtf.4	-	4	857	c.747G>T	c.(745-747)caG>caT	p.Q249H		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	249					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GAGAATAGCCCTGGTAGGTAA	0.577												
TPSD1	23430	broad.mit.edu	37	16	1306641	1306641	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:1306641C>T	uc002clb.1	+	1	216	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TPSD1_uc010brm.1_Silent_p.S7S	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCGGGGGCTCCCTCATCCACC	0.692												
DNAH3	55567	broad.mit.edu	37	16	20975342	20975342	+	Silent	SNP	G	G	A	rs142743875	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:20975342G>A	uc010vbe.2	-	52	9864	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_uc010vbd.2_Silent_p.D723D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3288					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGAGTCTCGTCAATCTGCG	0.498												
KIAA0556	23247	broad.mit.edu	37	16	27761189	27761189	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:27761189G>A	uc002dow.3	+	15	2932	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	970										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAAATCCCCGTCTTGCCTTA	0.557												
TRIM72	493829	broad.mit.edu	37	16	31235634	31235634	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:31235634C>T	uc002ebn.2	+	6	1276	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	331	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TTCGACAAGGCGGTGGCGGTG	0.731												
SMCR8	140775	broad.mit.edu	37	17	18219935	18219935	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:18219935G>A	uc002gsy.4	+	0	1342	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGATCAGGCCAGCCAGGC	0.517												
ENPP7	339221	broad.mit.edu	37	17	77710991	77710991	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:77710991G>A	uc002jxa.3	+	3	1198	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCATGTGCCGGCTGCTGGGC	0.647												
SLC38A10	124565	broad.mit.edu	37	17	79226299	79226302	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:79226299_79226302delTCTT	uc002jzz.1	-	12	2013_2016	c.1638_1641delAAGA	c.(1636-1641)gaaagafs	p.E546fs	SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.3_Frame_Shift_Del_p.E546fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	546					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTTTCTCTCTTTCTGAGTCGG	0.618												
DUS1L	64118	broad.mit.edu	37	17	80020801	80020801	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:80020801C>T	uc002kdq.3	-	3	865	c.446G>A	c.(445-447)cGt>cAt	p.R149H	DUS1L_uc002kdp.3_Missense_Mutation_p.R18H|DUS1L_uc002kdr.3_Missense_Mutation_p.R149H|DUS1L_uc010wvi.1_Missense_Mutation_p.R132H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	149					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGGAAGACACGGATTTTGCA	0.602												
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14513675T>C	uc010dln.3	-	9	1973	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	507								p.K507E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284												
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358												
ANKRD30B	374860	broad.mit.edu	37	18	14763986	14763986	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14763986C>G	uc010dlo.2	+	6	1302	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.C374W	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	374										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGACTGAATGCGTGGCAGGAG	0.363												
DSEL	92126	broad.mit.edu	37	18	65181103	65181103	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:65181103T>C	uc002lke.1	-	1	1997	c.773A>G	c.(772-774)aAt>aGt	p.N258S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.N258S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	248						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCCATATATTTGCTTTAGA	0.418												
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr19:51330985G>A	uc002ptl.3	-	1	161	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612												
NRXN1	9378	broad.mit.edu	37	2	50847197	50847197	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:50847197G>A	uc021vhh.1	-	6	2204	c.1283C>T	c.(1282-1284)tCa>tTa	p.S428L	NRXN1_uc002rxb.4_Missense_Mutation_p.S100L|NRXN1_uc021vhg.1_Missense_Mutation_p.S468L|NRXN1_uc021vhi.1_Missense_Mutation_p.S464L|NRXN1_uc021vhj.1_Missense_Mutation_p.S424L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	428	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGACTGGTGACCCTGGAAG	0.463												
EIF2AK3	9451	broad.mit.edu	37	2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:88870441G>A	uc002stc.4	-	13	3238	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	979	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488												
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289												
COL5A2	1290	broad.mit.edu	37	2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:189918184C>T	uc002uqk.3	-	37	2794	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E	COL5A2_uc010frx.3_Missense_Mutation_p.G416E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	840					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGTTGGCCCATTTTCACC	0.343												
GLS	2744	broad.mit.edu	37	2	191769831	191769831	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:191769831A>T	uc002usf.2	+	5	1181	c.917A>T	c.(916-918)cAt>cTt	p.H306L	GLS_uc002use.2_Missense_Mutation_p.H306L	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.V305A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAATATGTGCATCGATATGTT	0.348												
CPS1	1373	broad.mit.edu	37	2	211441119	211441119	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:211441119A>G	uc010fur.3	+	3	386	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	CPS1_uc002vee.4_Missense_Mutation_p.M96V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GATTCTCACAATGGCCAACCC	0.408												
RRP1B	23076	broad.mit.edu	37	21	45113183	45113183	+	Silent	SNP	A	A	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr21:45113183A>C	uc002zdk.3	+	15	2310	c.2196A>C	c.(2194-2196)tcA>tcC	p.S732S	RRP1B_uc002zdl.3_Silent_p.S265S	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	732					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCACCAGCTCACCTGCCAGCT	0.612												
C22orf42	150297	broad.mit.edu	37	22	32546408	32546408	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:32546408C>T	uc003amd.3	-	6	593	c.552G>A	c.(550-552)tcG>tcA	p.S184S		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	184								p.S184S(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACTGAGATCCGATGTCATGA	0.458												
TMPRSS6	164656	broad.mit.edu	37	22	37469590	37469590	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:37469590C>T	uc003aqt.1	-	12	1599	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E522K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	522	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTGCTCTTCGTCGCTGCCG	0.552												
KIF9	64147	broad.mit.edu	37	3	47307239	47307239	+	Silent	SNP	G	G	A	rs146278510		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr3:47307239G>A	uc010hjp.3	-	8	1501	c.897C>T	c.(895-897)caC>caT	p.H299H	KIF9_uc003cqx.3_Silent_p.H299H|KIF9_uc003cqy.3_Silent_p.H299H|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	299					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTTCAGAGCGTGGGTGAGCT	0.582												
CEP135	9662	broad.mit.edu	37	4	56875926	56875926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:56875926C>T	uc003hbi.3	+	18	2596	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	CEP135_uc003hbj.3_Nonsense_Mutation_p.R494*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	788					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGGTTAATCGAGATCGTGA	0.363												
WDFY3	23001	broad.mit.edu	37	4	85657415	85657415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:85657415G>A	uc003hpd.3	-	41	7231	c.6823C>T	c.(6823-6825)Cgt>Tgt	p.R2275C	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2275						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCTGACACGGGATAATTTG	0.373												
GFM2	84340	broad.mit.edu	37	5	74056813	74056813	+	Splice_Site	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:74056813T>C	uc010izj.1	-	4	486	c.160_splice	c.e4-1	p.N54_splice	GFM2_uc003kdh.1_Splice_Site_p.N22_splice|GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCATATATTCTAGTAAAGAGA	0.294												
PCDHAC2	56147	broad.mit.edu	37	5	140167207	140167207	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:140167207G>A	uc003lhb.2	+	0	1332	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PCDHAC2_uc003lha.2_Silent_p.E444E|PCDHAC2_uc003lgz.3_Silent_p.E444E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	458	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGGAGGTGGCCGACG	0.667												
RP9	6100	broad.mit.edu	37	7	33138995	33138995	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:33138995G>A	uc003tdm.3	-	2	255	c.237C>T	c.(235-237)caC>caT	p.H79H		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	79	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATTCCCTGGCGTGTTCATTGC	0.463												
FKBP9L	360132	broad.mit.edu	37	7	55752973	55752973	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:55752973C>T	uc010kzl.3	-	4	577	c.477G>A	c.(475-477)ctG>ctA	p.L159L	FKBP9L_uc010kzk.3_Silent_p.L48L|FKBP9L_uc003tqt.3_Silent_p.L48L|FKBP9L_uc011kcs.2_Silent_p.L48L|U6_uc022adq.1_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						GGCCAGCCACCAGCTCCAGCA	0.562												
CCDC146	57639	broad.mit.edu	37	7	76796979	76796979	+	Translation_Start_Site	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:76796979G>A	uc003uga.3	+	1					CCDC146_uc003ufz.1_5'UTR	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTTTAGAATCGTGAAAAATGG	0.308												
CROT	54677	broad.mit.edu	37	7	86998729	86998729	+	Silent	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:86998729G>T	uc003uiu.3	+	7	914	c.669G>T	c.(667-669)ctG>ctT	p.L223L	CROT_uc003uit.3_Silent_p.L195L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	195					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGTAGTGCTGTGTCGAGGCC	0.428												
ATP6V0A4	50617	broad.mit.edu	37	7	138440516	138440516	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:138440516G>T	uc003vuf.3	-	8	972	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ATP6V0A4_uc003vug.3_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T245N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	245					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGTAGACAGTGGCTCGAAA	0.498												
C9orf131	138724	broad.mit.edu	37	9	35045866	35045866	+	Nonstop_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:35045866G>C	uc003zvw.3	+	1	3269	c.3240G>C	c.(3238-3240)taG>taC	p.*1080Y	C9orf131_uc003zvu.3_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.3_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.3_Nonstop_Mutation_p.*1045Y	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTAGTCAGTAGAGAAAAGGCT	0.483												
CNTNAP3	79937	broad.mit.edu	37	9	39099958	39099959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:39099958_39099959insC	uc004abi.3	-	17	3183_3184	c.2944_2945insG	c.(2944-2946)gtcfs	p.V982fs	CNTNAP3_uc004abj.3_Intron|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	982	EGF-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCACAGGTGACCCCCCTGCGT	0.535												
GPR107	57720	broad.mit.edu	37	9	132848732	132848732	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:132848732A>G	uc004bze.2	+	6	825	c.598A>G	c.(598-600)Aat>Gat	p.N200D	GPR107_uc004bzb.2_Missense_Mutation_p.N11D|GPR107_uc011mbx.1_Missense_Mutation_p.N200D|GPR107_uc004bzd.2_Missense_Mutation_p.N200D	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGTTCATAATAATGGTGGGGC	0.348												
STS	412	broad.mit.edu	37	X	7194035	7194035	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:7194035G>A	uc004cry.4	+	5	1110	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	289					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTACCTCCACGTGCACACAGC	0.453									Ichthyosis			
PHF16	9767	broad.mit.edu	37	X	46918293	46918293	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:46918293G>C	uc004dgx.3	+	10	2337	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	PHF16_uc004dgy.3_Missense_Mutation_p.Q762H	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	762					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCATATCAGGAAAATGATG	0.483												
SLC6A14	11254	broad.mit.edu	37	X	115582754	115582754	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:115582754T>G	uc004eqi.3	+	7	1209	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	360					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CACTAGCGTGTTTGCTGGATT	0.358												
CDR1	1038	broad.mit.edu	37	X	139865904	139865904	+	Missense_Mutation	SNP	C	C	T	rs143948461		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:139865904C>T	uc004fbg.1	-	0	820	c.628G>A	c.(628-630)Gga>Aga	p.G210R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	210								p.G210R(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACATCTTCCGGAAAAAATC	0.438