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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418												
MST1P9	11223	broad.mit.edu	37	1	17086003	17086003	+	Silent	SNP	G	G	C	rs3982176		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:17086003G>C	uc010ock.2	-	6	894	c.894C>G	c.(892-894)ggC>ggG	p.G298G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCGCCCCCCCGCCCACCTCAC	0.657												
KLF17	128209	broad.mit.edu	37	1	44584644	44584644	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:44584644C>T	uc001clp.3	+	0	123	c.65C>T	c.(64-66)gCg>gTg	p.A22V	KLF17_uc009vxf.1_Intron	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	22					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A22A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGCGGCGCACCAGGCT	0.697												
CYP4A11	1579	broad.mit.edu	37	1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:47395834G>A	uc001cqp.4	-	11	1564	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587												
ELTD1	64123	broad.mit.edu	37	1	79404873	79404873	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:79404873T>A	uc001diq.4	-	4	552	c.396_splice	c.e4+1	p.K132_splice		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	132					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254												
BRDT	676	broad.mit.edu	37	1	92442915	92442915	+	Missense_Mutation	SNP	G	G	A	rs142308966		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:92442915G>A	uc001dol.4	+	6	1352	c.934G>A	c.(934-936)Gtt>Att	p.V312I	BRDT_uc010osz.2_Missense_Mutation_p.V316I|BRDT_uc001dok.4_Missense_Mutation_p.V312I|BRDT_uc009wdf.3_Missense_Mutation_p.V239I|BRDT_uc010otb.2_Missense_Mutation_p.V266I|BRDT_uc010ota.2_Missense_Mutation_p.V266I|BRDT_uc001dom.4_Missense_Mutation_p.V312I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	312	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.V312I(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTACTATGACGTTGTCAAAAA	0.323												
MNDA	4332	broad.mit.edu	37	1	158815528	158815528	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:158815528C>A	uc001fsz.1	+	4	922	c.722C>A	c.(721-723)gCc>gAc	p.A241D		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	241	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCTACAGTGGCCAGTAAGACT	0.403												
TOMM40L	84134	broad.mit.edu	37	1	161197734	161197734	+	Missense_Mutation	SNP	A	A	C	rs146096318	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:161197734A>C	uc001fzd.3	+	5	668	c.439A>C	c.(439-441)Aca>Cca	p.T147P	TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.3_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.T147P	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	147					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATGACTACACAGCCACTCT	0.522											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ASPM	259266	broad.mit.edu	37	1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197060162G>A	uc001gtu.3	-	22	9711	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_uc001gtv.3_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R1000*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3152					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289												
LHX9	56956	broad.mit.edu	37	1	197890610	197890610	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197890610C>T	uc001guk.1	+	2	991	c.554C>T	c.(553-555)gCc>gTc	p.A185V	LHX9_uc001gui.1_Missense_Mutation_p.A176V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	185	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TACTGCCGCGCCCACTTCGAG	0.607												
ITGA8	8516	broad.mit.edu	37	10	15649777	15649777	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:15649777G>A	uc001ioc.1	-	16	1663	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	555					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGAGCGTCCGTTTAATAGCT	0.433												
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TRIM21	6737	broad.mit.edu	37	11	4406616	4406616	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:4406616G>A	uc001lyy.1	-	6	1440	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	443	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAGAAGGGCCGCAGAGGTCCT	0.488												
OR52E4	390081	broad.mit.edu	37	11	5906308	5906308	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:5906308A>T	uc010qzs.2	+	0	786	c.786A>T	c.(784-786)acA>acT	p.T262T	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTATGACACATCGTTTTG	0.423												
BTBD10	84280	broad.mit.edu	37	11	13441120	13441120	+	Silent	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:13441120T>C	uc010rcl.2	-	2	766	c.495A>G	c.(493-495)aaA>aaG	p.K165K	BTBD10_uc001mkz.3_Silent_p.K157K|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Silent_p.K109K|BTBD10_uc010rcn.2_Silent_p.K126K|BTBD10_uc009ygo.3_Silent_p.K109K	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	157						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGCTCCTTCTTTTGCATTTT	0.418												
MMP7	4316	broad.mit.edu	37	11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	rs145006821	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:102398591C>T	uc001phb.3	-	1	279	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	MMP7_uc009yxd.3_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	78					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V78I(2)|p.R77R(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATTTCTATGACGCGGGAGTTT	0.408												
TEAD4	7004	broad.mit.edu	37	12	3121377	3121377	+	Silent	SNP	C	C	T	rs112112805		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:3121377C>T	uc010sej.2	+	4	625	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_uc010sek.2_Silent_p.R111R|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	111					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597												
PLEKHA5	54477	broad.mit.edu	37	12	19436297	19436297	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:19436297C>G	uc001reb.3	+	10	1487	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	PLEKHA5_uc010sie.2_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.3_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.3_Missense_Mutation_p.T218R|PLEKHA5_uc010sig.2_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc021qvy.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	460							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTTATAGAACACTCCCAAGA	0.438												
CYP27B1	1594	broad.mit.edu	37	12	58158677	58158677	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:58158677C>T	uc001spz.1	-	4	975	c.823G>A	c.(823-825)Gca>Aca	p.A275T	CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	275					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CTCATGGCTGCCTCTGCCTCT	0.617												
ATP8A2	51761	broad.mit.edu	37	13	26343355	26343355	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr13:26343355C>T	uc001uqk.3	+	25	2698	c.2556C>T	c.(2554-2556)taC>taT	p.Y852Y	ATP8A2_uc010tdi.2_Silent_p.Y812Y|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Y402Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	812					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCGGATTACGCCATCGCAC	0.582												
SRSF5	6430	broad.mit.edu	37	14	70234973	70234973	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr14:70234973G>T	uc001xll.3	+	2	1551	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	SRSF5_uc021rvj.1_Missense_Mutation_p.D34Y|LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_Missense_Mutation_p.D34Y|SRSF5_uc001xlo.3_Missense_Mutation_p.D34Y|SRSF5_uc001xlp.3_Missense_Mutation_p.D34Y	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	34	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						AAGAGATATTGATCTGAAAAG	0.428												
SEMA6D	80031	broad.mit.edu	37	15	48053911	48053911	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:48053911A>G	uc010bek.3	+	6	861	c.501A>G	c.(499-501)ccA>ccG	p.P167P	SEMA6D_uc001zvw.3_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.3_Silent_p.P167P|SEMA6D_uc001zvz.3_Silent_p.P167P|SEMA6D_uc001zwa.3_Silent_p.P167P|SEMA6D_uc001zwb.3_Silent_p.P167P|SEMA6D_uc001zwc.3_Silent_p.P167P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	167	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.C166Y(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGATGCCCATTTGATGCCA	0.373												
CSNK1G1	53944	broad.mit.edu	37	15	64472574	64472574	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:64472574G>A	uc002anf.3	-	10	1667	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	396					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTCCACCTCGGCATGAGCTGT	0.483												
ATXN2L	11273	broad.mit.edu	37	16	28842292	28842292	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:28842292G>C	uc002dqy.3	+	9	1387	c.1220G>C	c.(1219-1221)cGc>cCc	p.R407P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R407P|ATXN2L_uc002dqz.3_Missense_Mutation_p.R407P|ATXN2L_uc002dra.3_Missense_Mutation_p.R407P|ATXN2L_uc002drb.3_Missense_Mutation_p.R407P|ATXN2L_uc002drc.3_Missense_Mutation_p.R407P|ATXN2L_uc010vdb.2_Missense_Mutation_p.R407P|ATXN2L_uc002dre.3_Missense_Mutation_p.R407P|ATXN2L_uc002drf.3_Intron	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	407						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGCCCTTCCCGCATGTCCCCA	0.493												
ITGAX	3687	broad.mit.edu	37	16	31383748	31383748	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:31383748C>T	uc002ebt.3	+	17	2277	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	ITGAX_uc002ebu.1_Missense_Mutation_p.T737M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	737					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGAACTTCACGCTGGTGGGC	0.642												
SPAG5	10615	broad.mit.edu	37	17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr17:26919636G>A	uc002hbq.3	-	2	718	c.626C>T	c.(625-627)cCc>cTc	p.P209L	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	209					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483												
ADAMTS10	81794	broad.mit.edu	37	19	8661947	8661947	+	Missense_Mutation	SNP	C	C	T	rs141147742		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:8661947C>T	uc002mkj.1	-	7	1238	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGTTCACGATGGATTTC	0.572												
SLC1A6	6511	broad.mit.edu	37	19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:15073138G>A	uc002naa.1	-	4	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.3_Missense_Mutation_p.T204M|SLC1A6_uc002nac.3_Missense_Mutation_p.T204M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	204					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T204M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TACCACCCTCGTGCTGTACTG	0.532												
HIF3A	64344	broad.mit.edu	37	19	46807322	46807322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:46807322G>A	uc002peh.3	+	1	225	c.194G>A	c.(193-195)cGc>cAc	p.R65H	HIF3A_uc002pef.2_Missense_Mutation_p.R65H|HIF3A_uc002peg.4_Missense_Mutation_p.R65H|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R9H|HIF3A_uc002pej.2_Missense_Mutation_p.A45T|HIF3A_uc010xxy.2_Missense_Mutation_p.A45T|HIF3A_uc002pel.3_Missense_Mutation_p.R63H|HIF3A_uc010xxz.2_Missense_Mutation_p.A63T	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCTGCGCATGCACCGC	0.672												
SIGLEC14	100049587	broad.mit.edu	37	19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:52149086G>A	uc002pxf.4	-	2	769	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	217	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R217C(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642												
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:56552352C>T	uc002qmj.3	+	10	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	NLRP5_uc002qmi.3_Missense_Mutation_p.R932W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562												
PQLC3	130814	broad.mit.edu	37	2	11300636	11300636	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:11300636C>T	uc002rbc.3	+	1	321	c.188C>T	c.(187-189)cCg>cTg	p.P63L	PQLC3_uc010yjk.2_Missense_Mutation_p.P63L	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.	63						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGTATCCGCCGCTGACCTAC	0.617												
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542												
SCN7A	6332	broad.mit.edu	37	2	167262867	167262867	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:167262867C>A	uc002udu.2	-	24	4402	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1424					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAAGACAGAGCATACTGTTGC	0.348												
PLEKHA3	65977	broad.mit.edu	37	2	179365815	179365815	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:179365815A>T	uc002umn.3	+	6	1085	c.687A>T	c.(685-687)gtA>gtT	p.V229V	MIR548N_uc021vsx.1_Intron	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.	229						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGAACCAGTATCTACACTTC	0.378												
SPATS2L	26010	broad.mit.edu	37	2	201303921	201303921	+	Silent	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:201303921A>C	uc010zhc.2	+	6	735	c.612A>C	c.(610-612)tcA>tcC	p.S204S	SPATS2L_uc002uvn.4_Silent_p.S174S|SPATS2L_uc010fst.3_Silent_p.S174S|SPATS2L_uc002uvo.4_Silent_p.S114S|SPATS2L_uc002uvp.4_Silent_p.S174S|SPATS2L_uc002uvq.4_Intron|SPATS2L_uc002uvr.4_Silent_p.S174S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	174						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAGAGGTCAGATGGCCTAC	0.448												
UGT1A1	54578	broad.mit.edu	37	2	234602327	234602327	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:234602327T>G	uc002vuv.4	+	0	816	c.677T>G	c.(676-678)tTt>tGt	p.F226C	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.F226C	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	227					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTGTCTGTTTTCAAAGTAT	0.398												
PER2	8864	broad.mit.edu	37	2	239157720	239157720	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:239157720C>T	uc002vyc.3	-	21	3838	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	PER2_uc010znv.1_Missense_Mutation_p.A1201T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1201	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCGATGGCTGCGGGCAGGCCG	0.562												
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:13830889G>A	uc010gcf.3	-	18	1977	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_uc002woq.4_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.2_Missense_Mutation_p.A519V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458												
TSHZ2	128553	broad.mit.edu	37	20	51870967	51870967	+	Missense_Mutation	SNP	G	G	A	rs138844500	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:51870967G>A	uc002xwo.3	+	1	1857	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TSHZ2_uc021wex.1_Missense_Mutation_p.V321I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	324					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V324F(2)|p.V324I(2)|p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458												
SIM2	6493	broad.mit.edu	37	21	38092132	38092132	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr21:38092132C>T	uc002yvr.2	+	3	415	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SIM2_uc002yvq.3_Missense_Mutation_p.T120M	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	120	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGAGCTCACGGGCAACAGT	0.602												
GCAT	23464	broad.mit.edu	37	22	38211153	38211153	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr22:38211153G>A	uc003aua.2	+	4	738	c.675G>A	c.(673-675)gtG>gtA	p.V225V	GCAT_uc003atz.3_Silent_p.V199V	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGCGCCTGGTGGCCACTGATG	0.577												
CLSTN2	64084	broad.mit.edu	37	3	140275468	140275468	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:140275468G>A	uc003etn.3	+	10	1978	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	CLSTN2_uc003etm.2_Silent_p.A596A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	596					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T595M(1)|p.A596V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCAACGGCGGGTGTGCGGC	0.577										HNSCC(16;0.037)		
ZBTB38	253461	broad.mit.edu	37	3	141163945	141163945	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141163945C>T	uc010hup.3	+	1	2765	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	ZBTB38_uc003etw.3_Silent_p.D905D|ZBTB38_uc010hun.3_Silent_p.D902D|ZBTB38_uc010huo.3_Silent_p.D905D|ZBTB38_uc003ety.3_Silent_p.D905D|ZBTB38_uc021xes.1_Silent_p.D905D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	905					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTCGATGACGCAAGTGACC	0.498												
GRK7	131890	broad.mit.edu	37	3	141499458	141499458	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141499458G>A	uc011bnd.2	+	1	939	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	285	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACGTGGGCACGCGTGGCCTGG	0.557												
TPRG1	285386	broad.mit.edu	37	3	189038544	189038544	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:189038544A>T	uc003frv.2	+	10	1990	c.763A>T	c.(763-765)Atg>Ttg	p.M255L	TPRG1_uc003frw.2_Missense_Mutation_p.M255L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAGGGCTGATGTCATTCAT	0.433												
GAK	2580	broad.mit.edu	37	4	860238	860238	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:860238T>C	uc003gbm.4	-	21	3156	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	GAK_uc003gbn.4_Missense_Mutation_p.N907S|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.N839S	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	986					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAGTCCGAATTGAGAAATTC	0.622												
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:8307709A>G	uc003gla.3	+	8	1415	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647												
RASSF6	166824	broad.mit.edu	37	4	74477540	74477540	+	Silent	SNP	G	G	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:74477540G>T	uc003hhd.1	-	1	192	c.69C>A	c.(67-69)tcC>tcA	p.S23S	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	23					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATGGTCTGAGGATATCCTAA	0.343												
FRAS1	80144	broad.mit.edu	37	4	79343100	79343100	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:79343100C>T	uc003hlb.2	+	33	5064	c.4624C>T	c.(4624-4626)Cgc>Tgc	p.R1542C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1541					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTCATGTACCGCCCTCCCCC	0.567												
AGXT2L1	64850	broad.mit.edu	37	4	109667592	109667592	+	Silent	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:109667592T>C	uc003hzc.3	-	10	1447	c.1266A>G	c.(1264-1266)gcA>gcG	p.A422A	AGXT2L1_uc010imc.3_Silent_p.A416A|AGXT2L1_uc011cfm.2_Silent_p.A382A|AGXT2L1_uc011cfn.2_Silent_p.A349A|AGXT2L1_uc011cfo.2_Silent_p.A364A	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	422					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGAACTTTGCATCTTCTT	0.423												
TRIO	7204	broad.mit.edu	37	5	14389446	14389446	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:14389446A>G	uc003jff.3	+	24	4003	c.3997A>G	c.(3997-3999)Att>Gtt	p.I1333V	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1333	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACCTGGCATTGTAAACAA	0.408												
AP3B1	8546	broad.mit.edu	37	5	77477403	77477403	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:77477403C>T	uc003kfj.3	-	7	995	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	290					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCATAGTATACGGCTTCTTCT	0.343									Hermansky-Pudlak syndrome			
RGMB	285704	broad.mit.edu	37	5	98128833	98128833	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:98128833A>G	uc003knc.3	+	4	1215	c.813A>G	c.(811-813)aaA>aaG	p.K271K		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	230					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGATCAGAAAGTCTACCAAG	0.527												
PCDHAC2	56136	broad.mit.edu	37	5	140263481	140263481	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140263481C>T	uc003lif.2	+	0	1628	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P543L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P543L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	557	Cadherin 5.				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)			TCTGGCGTGCCGCCTCTGGGC	0.692												
PCDHGC5	56112	broad.mit.edu	37	5	140725753	140725753	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140725753G>A	uc003ljm.2	+	0	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R718H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	719					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)			AGGCTGCGGCGCTGGCACAAG	0.677												
CCDC99	54908	broad.mit.edu	37	5	169028402	169028402	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:169028402G>A	uc003mae.4	+	10	1722	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	CCDC99_uc010jjj.3_Silent_p.P410P|CCDC99_uc011deq.2_Silent_p.P298P|CCDC99_uc010jjk.3_Silent_p.P207P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	481					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGATTACCGCCTCAGAAAG	0.438												
ZNF323	64288	broad.mit.edu	37	6	28297413	28297413	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:28297413C>T	uc003nlc.3	-	1	437	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF323_uc003nld.3_Silent_p.E16E|ZNF323_uc010jra.3_Silent_p.E16E|ZNF323_uc003nla.3_Silent_p.E16E|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Silent_p.E16E|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TAGGGTCTTCCTCCACTTTCA	0.448												
EHMT2	10919	broad.mit.edu	37	6	31856011	31856011	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:31856011G>A	uc003nxz.1	-	12	1562	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	518					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTGGAAGCGGTGGGCCACA	0.622												
SLC26A8	116369	broad.mit.edu	37	6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:35980127G>A	uc003olm.3	-	2	322	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_uc003oll.3_Nonsense_Mutation_p.R71*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.R71*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	71					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468												
RAPGEF5	9771	broad.mit.edu	37	7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:22202112G>A	uc003svg.3	-	12	1185	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	141					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343												
ANLN	54443	broad.mit.edu	37	7	36478889	36478889	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:36478889G>C	uc003tff.3	+	20	3164	c.2960G>C	c.(2959-2961)aGa>aCa	p.R987T	ANLN_uc011kaz.2_Missense_Mutation_p.R899T|ANLN_uc003tfg.3_Missense_Mutation_p.R950T|ANLN_uc010kxe.3_Missense_Mutation_p.R949T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	987	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTGAAGAAAGAGGTTTTCTA	0.303												
TNS3	64759	broad.mit.edu	37	7	47336762	47336762	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:47336762G>A	uc003tnw.3	-	23	3952	c.3594C>T	c.(3592-3594)gaC>gaT	p.D1198D	TNS3_uc022acn.1_Silent_p.D755D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1198	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGAATGGCTGTCTCGAACAA	0.567												
PCLO	27445	broad.mit.edu	37	7	82764222	82764222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:82764222G>A	uc003uhx.2	-	2	2933	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(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						GCGGTAGGTCGTGGGCCAGGG	0.517												
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448												
ASB10	136371	broad.mit.edu	37	7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	rs104886484		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:150878052G>A	uc003wjm.1	-	2	1339	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	ASB10_uc003wjl.1_Missense_Mutation_p.R360C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	360					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701												
MLL3	58508	broad.mit.edu	37	7	151921652	151921652	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:151921652A>C	uc003wla.3	-	18	3245	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	MLL3_uc003wkz.3_Missense_Mutation_p.V70G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1009					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCCTCACACACAGTGCACTC	0.448			N		medulloblastoma							
NFIB	4781	broad.mit.edu	37	9	14307176	14307176	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:14307176T>C	uc022bdo.1	-	1	909	c.374A>G	c.(373-375)gAc>gGc	p.D125G	NFIB_uc003zlf.3_Missense_Mutation_p.D125G|NFIB_uc003zle.3_Missense_Mutation_p.D125G|NFIB_uc022bdp.1_Missense_Mutation_p.D151G|NFIB_uc011lmo.2_Missense_Mutation_p.D125G	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	125					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGACTTTGTCTGCCTGTCG	0.522			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""							
FAM75A6	389730	broad.mit.edu	37	9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:43627272A>G	uc011lrb.2	-	3	1444	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	472						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GCGGTGGGACAGGGGCTGGGC	0.522												
TMC1	117531	broad.mit.edu	37	9	75445373	75445373	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:75445373C>T	uc004aiz.1	+	21	2676	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	712					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTAGTTTGGCCATCTATTATC	0.303												
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:139311437G>A	uc004chl.3	+	6	673	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_uc011mdz.2_Missense_Mutation_p.R92H|PMPCA_uc010nbl.3_Missense_Mutation_p.R123H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R223C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562												
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chrX:114541268G>A	uc004eqa.3	+	3	875	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428												
