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
TMEM61	199964	broad.mit.edu	37	1	55457654	55457654	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:55457654G>A	uc001cyd.3	+	2	785	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	171						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CACCCAGCCCGCCTGGCCTCC	0.642												
TTF2	8458	broad.mit.edu	37	1	117638845	117638845	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:117638845C>T	uc001egy.3	+	19	3130	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1037	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGACTTATGCCACCATCGAT	0.458												
PI4KB	5298	broad.mit.edu	37	1	151271347	151271347	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:151271347C>T	uc001exr.3	-	9	2627	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	PI4KB_uc001exs.3_Missense_Mutation_p.R636H|PI4KB_uc001exu.3_Missense_Mutation_p.R636H|PI4KB_uc010pcw.2_Missense_Mutation_p.R319H|PI4KB_uc001ext.3_Missense_Mutation_p.R651H	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	651	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R663C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACAAAATTGCGCTGTGCACT	0.502												
HRNR	388697	broad.mit.edu	37	1	152188049	152188049	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152188049T>G	uc001ezt.1	-	2	6132	c.6056A>C	c.(6055-6057)cAt>cCt	p.H2019P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2019					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGAACCATGTTGCCCATG	0.552												
LCE5A	254910	broad.mit.edu	37	1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152484251C>T	uc021oyx.1	+	0	241	c.241C>T	c.(241-243)Cga>Tga	p.R81*	LCE5A_uc001ezy.3_Nonsense_Mutation_p.R81*|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	81	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677												
ITLN1	55600	broad.mit.edu	37	1	160851913	160851913	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:160851913G>T	uc001fxc.3	-	3	355	c.239C>A	c.(238-240)aCc>aAc	p.T80N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	80	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGCCACCAGGGTCCAGCCGCC	0.592												
AXDND1	126859	broad.mit.edu	37	1	179354443	179354443	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:179354443G>A	uc001gmo.3	+	8	1199	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	AXDND1_uc001gmn.2_Missense_Mutation_p.R59Q|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R229Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAACTTATTCGACAAGTCAGT	0.358												
WNT9A	7483	broad.mit.edu	37	1	228112065	228112065	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:228112065G>A	uc001hri.2	-	2	477	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	130					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGGCCAGCCGAGGAGATGGC	0.662												
NLRP3	114548	broad.mit.edu	37	1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	rs138946894	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:247587155G>A	uc001icr.3	+	4	548	c.410G>A	c.(409-411)cGt>cAt	p.R137H	NLRP3_uc001ics.3_Missense_Mutation_p.R137H|NLRP3_uc001icu.3_Missense_Mutation_p.R137H|NLRP3_uc001icw.3_Missense_Mutation_p.R137H|NLRP3_uc001icv.3_Missense_Mutation_p.R137H|NLRP3_uc010pyw.2_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	137					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTAGATTACCGTAAGAAGTAC	0.507												
ODF3	113746	broad.mit.edu	37	11	197577	197577	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:197577G>A	uc001lob.3	+	2	420	c.126G>A	c.(124-126)acG>acA	p.T42T	ODF3_uc010qvk.2_Silent_p.T42T|ODF3_uc001loc.3_Silent_p.T42T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		p.T42T(2)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652												
KRTAP5-4	387267	broad.mit.edu	37	11	1642827	1642827	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:1642827G>C	uc009ycy.1	-	2	479	c.392C>G	c.(391-393)tCc>tGc	p.S131C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	226	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.607												
APBB1	322	broad.mit.edu	37	11	6423823	6423823	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:6423823A>G	uc001mdb.1	-	6	1337	c.1237T>C	c.(1237-1239)Tct>Cct	p.S413P	APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	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.	413	PID 1.				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			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)		CAGCCCCCAGACATGGGGTCA	0.582												
OR4C12	283093	broad.mit.edu	37	11	50003266	50003266	+	Missense_Mutation	SNP	G	G	A	rs148765699	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:50003266G>A	uc010ria.2	-	0	806	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258L(1)|p.R258P(1)|p.R258H(1)|p.R258R(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTCACTGAGCGCAGATACACA	0.433												
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453												
OR8H3	390152	broad.mit.edu	37	11	55890211	55890211	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55890211T>G	uc001nii.1	+	0	363	c.363T>G	c.(361-363)gaT>gaG	p.D121E		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCCTATGATCGCTATGCAG	0.468												
TCN1	6947	broad.mit.edu	37	11	59630133	59630133	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:59630133C>T	uc001noj.2	-	2	420	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	108					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.A108S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCCTCAGCGTTACGACAT	0.358												
AHNAK	79026	broad.mit.edu	37	11	62284308	62284308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:62284308G>A	uc001ntl.3	-	4	17881	c.17581C>T	c.(17581-17583)Cga>Tga	p.R5861*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5861					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGACAGTCGGGACTTCTTA	0.522												
TECTA	7007	broad.mit.edu	37	11	120983846	120983846	+	Silent	SNP	C	C	T	rs148364865	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:120983846C>T	uc010rzo.2	+	3	552	c.552C>T	c.(550-552)taC>taT	p.Y184Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	184	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAATTATTACGAAATCAACT	0.567											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4D5	219875	broad.mit.edu	37	11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	rs141929562		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:123811110C>T	uc001pzk.1	+	0	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512												
ATN1	1822	broad.mit.edu	37	12	7047759	7047759	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:7047759C>T	uc001qrw.1	+	6	2870	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	878					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TACCTGGGTCCTGACACTCCA	0.632											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC26A10	65012	broad.mit.edu	37	12	58014190	58014190	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:58014190G>A	uc001spe.3	+	0	498	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	63						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCTTCCCCGTCCTCATCTA	0.537												
NOS1	4842	broad.mit.edu	37	12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:117723944G>A	uc001twn.2	-	5	1966	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_uc021ren.1_Missense_Mutation_p.R83C|NOS1_uc021reo.1_Missense_Mutation_p.R83C|NOS1_uc001twm.2_Missense_Mutation_p.R419C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					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)	CCCACACAGCGCGAGGCATTC	0.557												
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:121890960C>T	uc001uat.3	-	12	2026	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	KDM2B_uc010szy.2_Missense_Mutation_p.R81H|KDM2B_uc001uaq.3_Missense_Mutation_p.R81H|KDM2B_uc001uar.3_Missense_Mutation_p.R232H|KDM2B_uc001uas.3_Missense_Mutation_p.R610H|KDM2B_uc021rfd.1_Missense_Mutation_p.R610H|KDM2B_uc001uau.3_Missense_Mutation_p.R524H|KDM2B_uc021rfe.1_Missense_Mutation_p.R641H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	641					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706												
KBTBD6	89890	broad.mit.edu	37	13	41705212	41705212	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr13:41705212A>G	uc001uxu.1	-	0	1725	c.1436T>C	c.(1435-1437)cTa>cCa	p.L479P	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	479							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATTACCATTAGGTCAAAGGA	0.433												
TSHR	7253	broad.mit.edu	37	14	81610025	81610025	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:81610025C>T	uc001xvd.1	+	9	1779	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	541					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGTGCCATCATGGTTGGGG	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism					
ASB2	51676	broad.mit.edu	37	14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:94404157G>A	uc001ycd.3	-	8	2028	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_uc001ycb.2_Missense_Mutation_p.A199V|ASB2_uc001ycc.2_Missense_Mutation_p.A505V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	505	SOCS box.				intracellular signal transduction			p.R553Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597												
MGA	23269	broad.mit.edu	37	15	42058284	42058284	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:42058284C>T	uc010ucy.2	+	23	8185	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	MGA_uc010ucz.2_Silent_p.G2459G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2629						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATATGGGTGGCAGCAAATATC	0.393												
EIF3J	8669	broad.mit.edu	37	15	44849840	44849840	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:44849840G>A	uc001ztv.3	+	5	690	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	EIF3J_uc010ueg.2_Intron	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	188						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CGAGATGTGTGTATTTCATGT	0.313												
MORF4L1	10933	broad.mit.edu	37	15	79183885	79183885	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:79183885A>G	uc002bel.3	+	7	714	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.3_Missense_Mutation_p.R137G|MORF4L1_uc010une.2_Missense_Mutation_p.R49G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	176	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCGGAAGAAAAGGGCCCGGGT	0.448												
GRIN2A	2903	broad.mit.edu	37	16	9943716	9943716	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:9943716C>T	uc010uym.2	-	5	1535	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	GRIN2A_uc002czo.4_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.2_Missense_Mutation_p.V252I|GRIN2A_uc002czr.4_Missense_Mutation_p.V409I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCAGGGTGACGATGCTGAGA	0.582												
CPNE7	27132	broad.mit.edu	37	16	89649923	89649923	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:89649923C>T	uc002fnp.3	+	3	699	c.569C>T	c.(568-570)aCg>aTg	p.T190M	CPNE7_uc002fnq.3_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	190					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGGCCACACGCAGGGATGG	0.642												
NF1	4763	broad.mit.edu	37	17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29533378C>T	uc002hgg.3	+	11	1764	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	NF1_uc002hge.2_Nonsense_Mutation_p.R461*|NF1_uc002hgf.2_Nonsense_Mutation_p.R461*|NF1_uc002hgh.3_Nonsense_Mutation_p.R461*|NF1_uc010csn.2_Nonsense_Mutation_p.R321*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	461					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.R461*(6)|p.?(6)	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)		CCCAGCAATACGAATGGCACC	0.383			"""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)		
NF1	4763	broad.mit.edu	37	17	29552132	29552132	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29552132G>T	uc002hgg.3	+	16	2248	c.1865G>T	c.(1864-1866)tGt>tTt	p.C622F	NF1_uc002hgh.3_Missense_Mutation_p.C622F|NF1_uc010csn.2_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	622					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)|p.C622*(1)	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)		AGAAGTTCCTGTCACTTTCTC	0.373			"""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)		
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:32956104C>T	uc002hif.3	+	4	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	317						integral to membrane		p.R317W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612												
TEX34	124783	broad.mit.edu	37	17	43333267	43333267	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:43333267G>A	uc002iis.1	-	3	378	c.282C>T	c.(280-282)aaC>aaT	p.N94N	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Silent_p.N73N	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	94																	CAGACTCCTCGTTCGAGTTGG	0.562												
LRRC37A3	374819	broad.mit.edu	37	17	62893283	62893283	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:62893283C>G	uc002jey.2	-	2	709	c.93G>C	c.(91-93)tgG>tgC	p.W31C	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	31						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGACTAGTAGCCACAATAGTT	0.622												
ZNF532	55205	broad.mit.edu	37	18	56587257	56587257	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:56587257G>A	uc010xeg.2	+	2	1935	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	ZNF532_uc002lhp.3_Missense_Mutation_p.V578M|ZNF532_uc002lho.3_Missense_Mutation_p.V580M|ZNF532_uc002lhr.3_Missense_Mutation_p.V578M|ZNF532_uc002lhs.3_Missense_Mutation_p.V578M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGAGTTCTGTGGTGGAAGC	0.522												
ZNF236	7776	broad.mit.edu	37	18	74680222	74680222	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:74680222G>T	uc002lmi.3	+	30	5663	c.5465G>T	c.(5464-5466)aGc>aTc	p.S1822I	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1822					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGAGCTGAGCCGGACCCTC	0.602												
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:8808430C>T	uc002mkl.2	-	0	743	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667												
PVR	5817	broad.mit.edu	37	19	45153152	45153152	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:45153152G>A	uc002ozm.3	+	2	798	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	PVR_uc010ejs.3_Missense_Mutation_p.V167I|PVR_uc010xxb.2_Missense_Mutation_p.V167I|PVR_uc010xxc.2_Missense_Mutation_p.V167I|PVR_uc002ozn.3_Missense_Mutation_p.V112I	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	167	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCGCTGCGTCTCCACAGG	0.617												
NTF4	4909	broad.mit.edu	37	19	49564639	49564639	+	Missense_Mutation	SNP	G	G	A	rs121918427		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:49564639G>A	uc002pmf.4	-	1	752	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R206W	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	206			R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGCCAGTCCGGCTGAGGAGT	0.602												
ZNF813	126017	broad.mit.edu	37	19	53994271	53994271	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:53994271G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R262H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTGTGCCATCGTAGATGTCAC	0.413												
SNTG2	54221	broad.mit.edu	37	2	1168837	1168837	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:1168837G>A	uc002qwq.3	+	7	688	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	187					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G187S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTTGACAGCGGTTTGCATCT	0.468												
ABCG5	64240	broad.mit.edu	37	2	44051252	44051252	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:44051252A>G	uc002rtn.3	-	8	1264	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.V204A|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	375					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTTCTTGTCACTCTCCTGAA	0.433												
PPP1R21	129285	broad.mit.edu	37	2	48692078	48692078	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:48692078T>G	uc002rwm.3	+	7	882	c.697T>G	c.(697-699)Tat>Gat	p.Y233D	PPP1R21_uc002rwi.1_Missense_Mutation_p.Y233D|PPP1R21_uc002rwj.3_Missense_Mutation_p.Y233D|PPP1R21_uc002rwl.3_Missense_Mutation_p.Y187D|PPP1R21_uc002rwk.3_Missense_Mutation_p.Y233D|PPP1R21_uc010yok.2_Missense_Mutation_p.Y233D	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	233										endometrium(2)|kidney(4)|lung(9)	15						TTCTGTAGAATATAGTCAGTA	0.318												
APLF	200558	broad.mit.edu	37	2	68729870	68729870	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:68729870C>G	uc002sep.3	+	2	349	c.176C>G	c.(175-177)aCa>aGa	p.T59R	APLF_uc010fdf.2_Missense_Mutation_p.T35R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	59	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGATACACACAAATCCATGT	0.264												
ALPPL2	251	broad.mit.edu	37	2	233274393	233274393	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:233274393C>T	uc002vss.4	+	10	1463	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	470					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGGTTCACGGCGTGCAGGAGC	0.716												
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:44587938G>A	uc002xqw.3	-	14	2278	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_uc010zxk.2_Missense_Mutation_p.R564C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(4)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657												
UCKL1	54963	broad.mit.edu	37	20	62571758	62571758	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:62571758C>T	uc010gkn.3	-	12	1458	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	UCKL1_uc011abm.2_Silent_p.A446A|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	461					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCATGGCCGCCGCGCCCG	0.642												
TPTE	7179	broad.mit.edu	37	21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	rs147014138	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr21:10942995G>A	uc002yip.1	-	11	960	c.592C>T	c.(592-594)Cga>Tga	p.R198*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L197H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.313												
KLHL22	84861	broad.mit.edu	37	22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:20819524G>A	uc002zsl.2	-	3	890	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_uc011ahr.2_Missense_Mutation_p.R102W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	245					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607												
RFPL2	10739	broad.mit.edu	37	22	32586994	32586994	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:32586994C>T	uc003amg.3	-	4	1838	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGTAACTTGCGGTCTACGAA	0.512												
SETD2	29072	broad.mit.edu	37	3	47098909	47098909	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:47098909C>T	uc003cqv.3	-	15	6652	c.6566G>A	c.(6565-6567)cGg>cAg	p.R2189Q	SETD2_uc003cqs.3_Missense_Mutation_p.R2122Q|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2122	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACAACTTCCGGCGTTCCTC	0.423			"""N, F, S, Mis"""		clear cell renal carcinoma							
ABHD14A	25864	broad.mit.edu	37	3	52014464	52014464	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:52014464G>A	uc003dco.3	+	3	563	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	151						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGGGCAGCGCTGCTGGAGC	0.652												
CACNA2D3	55799	broad.mit.edu	37	3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:55107854C>T	uc003dhf.3	+	36	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1051						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R1051K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATCAGAAGGCGCCCAGAATC	0.448												
SENP7	57337	broad.mit.edu	37	3	101136587	101136587	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:101136587C>T	uc003dut.3	-	4	443	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SENP7_uc003duu.3_Missense_Mutation_p.R111Q|SENP7_uc003duv.3_Missense_Mutation_p.R78Q|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	111					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGAATTTTCGTCCTAAATC	0.378												
SOWAHB	345079	broad.mit.edu	37	4	77817817	77817817	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:77817817C>T	uc003hki.3	-	0	1186	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	396																	TCCACAAAGTCATCCAGATCT	0.572												
MMRN1	22915	broad.mit.edu	37	4	90857233	90857233	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:90857233A>C	uc003hst.3	+	5	2473	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.Q543P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	801					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTTTTGCAAGTCGCCAAG	0.378												
PCDHAC2	56147	broad.mit.edu	37	5	140167729	140167729	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140167729G>A	uc003lhb.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				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)			CAGGCGGCGCGCGCATCCCGT	0.667												
PCDHB12	56124	broad.mit.edu	37	5	140590288	140590288	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140590288G>A	uc003liz.3	+	0	1998	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	PCDHB12_uc011dak.2_Silent_p.S266S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	603	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721												
PCDHGC5	56111	broad.mit.edu	37	5	140736435	140736435	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140736435C>T	uc003ljq.2	+	0	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.N556N	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	558	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATGTCC	0.577												
NOTCH4	4855	broad.mit.edu	37	6	32172007	32172007	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:32172007C>T	uc003obb.3	-	18	3164	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1009	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCAGACACTCGTCCACGTCT	0.612												
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:76599857_76599858insA	uc003pih.1	+	25	3021_3022	c.2742_2743insA	c.(2740-2745)cagaaafs	p.Q914fs	MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381												
QKI	9444	broad.mit.edu	37	6	163899821	163899821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:163899821delG	uc003qui.3	+	2	846	c.295delG	c.(295-297)gttfs	p.V99fs	QKI_uc003quj.3_Frame_Shift_Del_p.V99fs|QKI_uc003quh.3_Frame_Shift_Del_p.V99fs|QKI_uc003que.3_Frame_Shift_Del_p.V99fs|QKI_uc003quf.3_Frame_Shift_Del_p.V99fs|QKI_uc003qug.3_Frame_Shift_Del_p.V99fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	99	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GTTTAATTTTGTTGGGAGAAT	0.358												
ANLN	54443	broad.mit.edu	37	7	36459856	36459856	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:36459856A>G	uc003tff.3	+	10	2152	c.1948A>G	c.(1948-1950)Aga>Gga	p.R650G	ANLN_uc011kaz.2_Missense_Mutation_p.R562G|ANLN_uc003tfg.3_Missense_Mutation_p.R613G|ANLN_uc010kxe.3_Missense_Mutation_p.R612G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	650	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAATTCCAAAGAACTCGTGT	0.433												
CACNA2D1	781	broad.mit.edu	37	7	81799924	81799924	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:81799924C>T	uc003uhr.1	-	4	551	c.295_splice	c.e4-1	p.R99_splice		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	99				R -> S (in Ref. 1; AAA51903).		voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAATGCCAGGCGCTGAAAAAC	0.348												
PCLO	27445	broad.mit.edu	37	7	82784341	82784341	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:82784341G>T	uc003uhx.2	-	1	1905	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	PCLO_uc003uhv.2_Missense_Mutation_p.P539H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	485	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P539P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGAGGGTTTTGCTGA	0.547												
SAMD9L	219285	broad.mit.edu	37	7	92763758	92763758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:92763758A>C	uc003umh.1	-	4	2743	c.1527T>G	c.(1525-1527)taT>taG	p.Y509*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.Y509*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	509										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGAGGTTTATATGTCTCGC	0.378												
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:143175728G>A	uc003wdc.1	+	0	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	255					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A254A(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493												
TPD52L3	89882	broad.mit.edu	37	9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:6328761C>T	uc003zjw.3	+	0	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_uc003zjv.3_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.2_Missense_Mutation_p.R56C	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	56							protein binding	p.R56C(3)|p.R56L(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512												
TMEM215	401498	broad.mit.edu	37	9	32784670	32784670	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:32784670C>T	uc022bfh.1	+	0	489	c.489C>T	c.(487-489)gaC>gaT	p.D163D	TMEM215_uc003zri.4_Silent_p.D163D	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	163						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602												
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:77423011C>T	uc004ajl.1	-	13	1815	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc022bib.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388												
FGD3	89846	broad.mit.edu	37	9	95792189	95792189	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:95792189C>T	uc004asz.2	+	14	2119	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	FGD3_uc004asw.2_Missense_Mutation_p.R531C|FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	531					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAAGACCAGACGTGACAAGGA	0.537												
TLR7	51284	broad.mit.edu	37	X	12906487	12906487	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:12906487G>A	uc004cvc.3	+	2	2999	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	954	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAAAAAGACAGTGTTTGTGAT	0.388												
CHRDL1	91851	broad.mit.edu	37	X	109922646	109922646	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:109922646G>A	uc004eou.4	-	10	1513	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	CHRDL1_uc004eov.3_Silent_p.L377L|CHRDL1_uc004eow.3_Silent_p.L386L|CHRDL1_uc010nps.3_Silent_p.L387L|CHRDL1_uc011mss.2_Silent_p.L308L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453												
AFF2	2334	broad.mit.edu	37	X	148039907	148039907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:148039907G>A	uc004fcp.3	+	11	3088	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	AFF2_uc004fcq.3_Missense_Mutation_p.R860H|AFF2_uc004fcr.3_Missense_Mutation_p.R831H|AFF2_uc011mxb.2_Missense_Mutation_p.R835H|AFF2_uc004fcs.3_Missense_Mutation_p.R837H|AFF2_uc011mxc.2_Missense_Mutation_p.R511H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	870					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCAGCGCCTGGAGGAG	0.512												
L1CAM	3897	broad.mit.edu	37	X	153130576	153130576	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153130576C>T	uc004fjb.3	-	20	2947	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_uc004fjc.3_Missense_Mutation_p.V947M|L1CAM_uc010nuo.3_Missense_Mutation_p.V942M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	947	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.V947M(2)|p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGTGAGCACGCCGTTGTGG	0.716												
AVPR2	554	broad.mit.edu	37	X	153171843	153171843	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153171843G>A	uc004fjh.4	+	1	1055	c.883G>A	c.(883-885)Gcg>Acg	p.A295T	AVPR2_uc004fjg.4_Missense_Mutation_p.A84T|AVPR2_uc004fji.3_Missense_Mutation_p.A295T	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	295					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTGGGCCGCGTGGGACCC	0.647