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
TTLL10	254173	broad.mit.edu	37	1	1115547	1115547	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1115547C>T	uc001acy.2	+	6	484	c.333C>T	c.(331-333)CCC>CCT	p.P111P	uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.P111P|TTLL10_uc001acz.1_Silent_p.P38P	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	111					protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCCACACCCGGACCCCCTG	0.692												
KIAA1751	85452	broad.mit.edu	37	1	1903447	1903447	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1903447G>A	uc001aim.1	-	9	1016	c.860C>T	c.(859-861)GCG>GTG	p.A287V	KIAA1751_uc009vkz.1_Missense_Mutation_p.A287V	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	287										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCCTTCAGCGCCACCACCGC	0.627												
GABRD	2563	broad.mit.edu	37	1	1961191	1961191	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1961191C>T	uc001aip.2	+	8	1144	c.1049C>T	c.(1048-1050)CCG>CTG	p.P350L		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	350	Cytoplasmic (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GTCTCCAGGCCGAGGGCAGAG	0.637												
PRKCZ	5590	broad.mit.edu	37	1	2077501	2077501	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:2077501C>T	uc001aiq.2	+	7	749	c.588C>T	c.(586-588)GAC>GAT	p.D196D	PRKCZ_uc001air.2_Silent_p.D13D|PRKCZ_uc010nyw.1_Silent_p.D92D|PRKCZ_uc001ais.2_Silent_p.D13D|PRKCZ_uc009vla.2_Silent_p.D20D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.D9D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	196					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTCCAGTAGACGACAAGAACG	0.567												
NPHP4	261734	broad.mit.edu	37	1	5937172	5937172	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:5937172C>T	uc001alq.1	-	20	3064	c.2798G>A	c.(2797-2799)CGG>CAG	p.R933Q	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	933					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCCGCGCCGGCCCAAGTC	0.652												
SLC2A7	155184	broad.mit.edu	37	1	9067390	9067390	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9067390C>T	uc009vmo.1	-	10	1171	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	391	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GAATGTCCCGCGATGTAGGCA	0.498												
GPR157	80045	broad.mit.edu	37	1	9164630	9164630	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9164630C>T	uc001apq.1	-	4	999	c.856G>A	c.(856-858)GTC>ATC	p.V286I	GPR157_uc010oad.1_Missense_Mutation_p.V221I	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGAGTTCGGACGGCGCGGGTG	0.622												
H6PD	9563	broad.mit.edu	37	1	9324704	9324704	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9324704C>T	uc001apt.2	+	5	2425	c.2152C>T	c.(2152-2154)CTG>TTG	p.L718L		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	718	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCTGGTCGTGCTGACCACGAG	0.652												
MTOR	2475	broad.mit.edu	37	1	11190747	11190747	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11190747G>A	uc001asd.2	-	39	5573	c.5452C>T	c.(5452-5454)CGT>TGT	p.R1818C	MTOR_uc001asc.2_Missense_Mutation_p.R23C	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1818	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CTGGCATGACGCAGTTTCTTC	0.383												
MTOR	2475	broad.mit.edu	37	1	11204730	11204730	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11204730C>T	uc001asd.2	-	34	4968	c.4847G>A	c.(4846-4848)CGC>CAC	p.R1616H		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1616	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CCAGATCTGGCGGATGATCTC	0.582												
MTOR	2475	broad.mit.edu	37	1	11313928	11313928	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11313928C>T	uc001asd.2	-	6	929	c.808G>A	c.(808-810)GAG>AAG	p.E270K		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	270					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CGGACCAGCTCGTTAAGGATC	0.483												
UBIAD1	29914	broad.mit.edu	37	1	11345851	11345851	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11345851C>A	uc001asg.2	+	2	1014	c.680C>A	c.(679-681)GCC>GAC	p.A227D		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	227	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCACCGAGGCCATTCTCCAT	0.617												
MTHFR	4524	broad.mit.edu	37	1	11854880	11854880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11854880G>A	uc001atc.1	-	7	1256	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	MTHFR_uc001atb.1_Nonsense_Mutation_p.R381*	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	358					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCTTCCTCTCGGCGCTTGGGG	0.607												
MIIP	60672	broad.mit.edu	37	1	12091811	12091811	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:12091811G>A	uc001ato.1	+	10	1293	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	371										ovary(1)	1						CCCCGACCCCGACCTGGTCAG	0.657												
TMEM82	388595	broad.mit.edu	37	1	16073510	16073510	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16073510C>T	uc001axc.2	+	5	1044	c.906C>T	c.(904-906)CTC>CTT	p.L302L		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	302	Helical; (Potential).|Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGTGTCTCGTGGGCGTCC	0.637												
HSPB7	27129	broad.mit.edu	37	1	16342093	16342093	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16342093C>T	uc001axo.2	-	3	1322	c.495G>A	c.(493-495)CGG>CGA	p.R165R	HSPB7_uc001axp.2_Silent_p.R248R|HSPB7_uc001axq.2_Silent_p.R257R|HSPB7_uc001axr.2_Silent_p.R258R|HSPB7_uc001axs.2_Silent_p.R240R	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	165					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCTCCGTCCGGAAGGTCT	0.637												
FAM131C	348487	broad.mit.edu	37	1	16362745	16362745	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16362745A>G	uc010obz.1	-	6	738	c.548T>C	c.(547-549)ATC>ACC	p.I183T	CLCNKB_uc001axw.3_Intron	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	hypothetical protein LOC348487	183											0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGACGATGCCCTGGGG	0.398												
ATP13A2	23400	broad.mit.edu	37	1	17332225	17332225	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17332225G>A	uc001baa.2	-	2	249	c.59C>T	c.(58-60)ACG>ATG	p.T20M	ATP13A2_uc001bab.2_Missense_Mutation_p.T20M|ATP13A2_uc001bac.2_Missense_Mutation_p.T20M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	20	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGTCCCTATCGTCAGGGTCCC	0.582												
PADI2	11240	broad.mit.edu	37	1	17411114	17411114	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17411114G>A	uc001baf.2	-	8	1000	c.918C>T	c.(916-918)CCC>CCT	p.P306P	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Silent_p.P306P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	306					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCGACACGGGAGGCAGGA	0.413												
KIF17	57576	broad.mit.edu	37	1	21011475	21011475	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:21011475C>T	uc001bdr.3	-	10	2176	c.2058G>A	c.(2056-2058)GTG>GTA	p.V686V	KIF17_uc001bdp.3_5'UTR|KIF17_uc001bdq.3_5'UTR|KIF17_uc009vpx.2_Silent_p.V56V|KIF17_uc001bds.3_Silent_p.V686V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	686					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCTGTCCGCACCACCTCTA	0.667												
RAP1GAP	5909	broad.mit.edu	37	1	21929337	21929337	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:21929337C>T	uc001bex.2	-	19	1756	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	500					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ATGCCAATGGCGCTGCTGCGG	0.642												
HTR1D	3352	broad.mit.edu	37	1	23519991	23519991	+	Missense_Mutation	SNP	G	G	A	rs138622697	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:23519991G>A	uc001bgn.2	-	1	1232	c.722C>T	c.(721-723)ACG>ATG	p.T241M		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	241	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAGGTGGGCCGTGGTGAAGCG	0.612												
ASAP3	55616	broad.mit.edu	37	1	23782429	23782429	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:23782429C>T	uc001bha.2	-	3	417	c.293G>A	c.(292-294)GGC>GAC	p.G98D	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Missense_Mutation_p.G98D|ASAP3_uc001bhc.1_Missense_Mutation_p.G98D	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	98					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GTTTAGGAAGCCTGTGGACAG	0.567												
SEPN1	57190	broad.mit.edu	37	1	26135266	26135266	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:26135266C>T	uc010oer.1	+	7	788	c.733C>T	c.(733-735)CCC>TCC	p.P245S	SEPN1_uc010oes.1_Missense_Mutation_p.P211S	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	245						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGCCGCCCAAGGGCAA	0.682												
FGR	2268	broad.mit.edu	37	1	27939528	27939528	+	Missense_Mutation	SNP	C	C	T	rs141451773	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27939528C>T	uc001boj.2	-	11	1633	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	FGR_uc001boi.2_Missense_Mutation_p.R199H|FGR_uc001bok.2_Missense_Mutation_p.R496H|FGR_uc001bol.2_Missense_Mutation_p.R496H|FGR_uc001bom.2_Missense_Mutation_p.R496H	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	496	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGTCCAGACGCCAGGTCTG	0.602												
EPB41	2035	broad.mit.edu	37	1	29391662	29391662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:29391662G>T	uc001brm.1	+	15	2183	c.2176G>T	c.(2176-2178)GGA>TGA	p.G726*	EPB41_uc001brg.1_Nonsense_Mutation_p.G503*|EPB41_uc001brh.1_Nonsense_Mutation_p.G484*|EPB41_uc001bri.1_Nonsense_Mutation_p.G637*|EPB41_uc001brj.1_Nonsense_Mutation_p.G463*|EPB41_uc001brk.2_Nonsense_Mutation_p.G712*|EPB41_uc001brl.1_Nonsense_Mutation_p.G693*|EPB41_uc009vtl.1_Nonsense_Mutation_p.G463*|EPB41_uc009vtm.1_Nonsense_Mutation_p.G305*	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	726	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			ovary(1)	1		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AATCCCCACAGGAGAAGGAGT	0.423												
PTPRU	10076	broad.mit.edu	37	1	29639169	29639169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:29639169G>A	uc001bru.2	+	23	3318	c.3208G>A	c.(3208-3210)GTG>ATG	p.V1070M	PTPRU_uc001brv.2_Missense_Mutation_p.V1066M|PTPRU_uc001brw.2_Missense_Mutation_p.V1060M|PTPRU_uc009vtq.2_Missense_Mutation_p.V1066M|PTPRU_uc009vtr.2_Missense_Mutation_p.V1057M	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1070	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CATCCGGCGCGTGAAGGCCTC	0.652												
SPOCD1	90853	broad.mit.edu	37	1	32280862	32280862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:32280862G>A	uc001bts.1	-	2	131	c.73C>T	c.(73-75)CTT>TTT	p.L25F	SPOCD1_uc001btu.2_Missense_Mutation_p.L25F|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	25					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCTGTAAAAGCTCACAGTTG	0.612												
ZBTB8OS	339487	broad.mit.edu	37	1	33116139	33116139	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:33116139G>A	uc001bvp.2	-	1	47	c.28C>T	c.(28-30)CCT>TCT	p.P10S	ZBTB8OS_uc001bvo.1_RNA|ZBTB8OS_uc001bvq.2_5'UTR|RBBP4_uc001bvr.2_5'Flank|RBBP4_uc001bvs.2_5'Flank|RBBP4_uc010ohj.1_5'Flank|RBBP4_uc010ohk.1_5'Flank	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite	Error:Variant_position_missing_in_Q8IWT0_after_alignment											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGACTGCAGGATTAGACACT	0.517												
ZMYM1	79830	broad.mit.edu	37	1	35578792	35578792	+	Missense_Mutation	SNP	G	G	A	rs7552714		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:35578792G>A	uc001bym.2	+	11	1509	c.1361G>A	c.(1360-1362)CGA>CAA	p.R454Q	ZMYM1_uc001byn.2_Missense_Mutation_p.R454Q|ZMYM1_uc010ohu.1_Missense_Mutation_p.R435Q|ZMYM1_uc001byo.2_Missense_Mutation_p.R94Q|ZMYM1_uc009vut.2_Missense_Mutation_p.R379Q	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	454	TTF-type.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTAAATCACGAAGTATTAAA	0.303												
ZMYM4	9202	broad.mit.edu	37	1	35885120	35885120	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:35885120C>T	uc001byt.2	+	30	4569	c.4489C>T	c.(4489-4491)CGC>TGC	p.R1497C	ZMYM4_uc009vuu.2_Missense_Mutation_p.R1465C|ZMYM4_uc001byu.2_Missense_Mutation_p.R1173C|ZMYM4_uc009vuv.2_Missense_Mutation_p.R1236C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1497					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAACCTGAGCGCTCCTGTGT	0.443												
THRAP3	9967	broad.mit.edu	37	1	36757044	36757044	+	Missense_Mutation	SNP	G	G	T	rs146222773		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:36757044G>T	uc001cae.3	+	6	2039	c.1815G>T	c.(1813-1815)CAG>CAT	p.Q605H	THRAP3_uc001caf.3_Missense_Mutation_p.Q605H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	605					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAAGGAACAGGAGTTTCGTT	0.458			T	USP6	aneurysmal bone cysts							
GNL2	29889	broad.mit.edu	37	1	38033290	38033290	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:38033290G>A	uc001cbk.2	-	15	2190	c.2027C>T	c.(2026-2028)GCG>GTG	p.A676V		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	676					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TGATGTAAGCGCCCTGGGAGC	0.428												
RSPO1	284654	broad.mit.edu	37	1	38082196	38082196	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:38082196T>C	uc001cbl.1	-	5	1034	c.246A>G	c.(244-246)GGA>GGG	p.G82G	RSPO1_uc001cbm.1_Silent_p.G82G|RSPO1_uc009vvf.1_Silent_p.G55G|RSPO1_uc009vvg.1_Silent_p.G82G	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	82	FU 1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTCGAAGTATCCAGGTGGGC	0.617												
NDUFS5	4725	broad.mit.edu	37	1	39494443	39494443	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:39494443G>A	uc001ccx.2	+	2	118	c.47G>A	c.(46-48)CGA>CAA	p.R16Q	NDUFS5_uc001ccy.2_Missense_Mutation_p.R16Q	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	16					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	AACATAGATCGATGGTTGACA	0.403												
KCNQ4	9132	broad.mit.edu	37	1	41303406	41303406	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:41303406C>T	uc001cgh.1	+	13	1897	c.1815C>T	c.(1813-1815)TCC>TCT	p.S605S	KCNQ4_uc001cgi.1_Silent_p.S551S	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	605	Cytoplasmic.|A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGGGCCCTCCGACGCGGAGG	0.637												
FOXJ3	22887	broad.mit.edu	37	1	42664774	42664774	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:42664774G>A	uc001che.2	-	9	1070	c.758C>T	c.(757-759)CCG>CTG	p.P253L	FOXJ3_uc001chf.2_Missense_Mutation_p.P253L|FOXJ3_uc001chg.2_Missense_Mutation_p.P253L|FOXJ3_uc001chh.1_Missense_Mutation_p.P219L	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	253					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGACTTACCGGTGTATAACT	0.343												
SLC2A1	6513	broad.mit.edu	37	1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:43395570C>T	uc001cik.2	-	5	1178	c.653G>A	c.(652-654)CGC>CAC	p.R218H		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	218	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652												
TIE1	7075	broad.mit.edu	37	1	43770734	43770734	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:43770734C>T	uc001ciu.2	+	2	350	c.271C>T	c.(271-273)CGC>TGC	p.R91C	TIE1_uc010okd.1_Missense_Mutation_p.R91C|TIE1_uc010oke.1_Missense_Mutation_p.R46C|TIE1_uc009vwq.2_Missense_Mutation_p.R91C|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R91C|TIE1_uc010okb.1_Missense_Mutation_p.R91C|TIE1_uc010okc.1_Missense_Mutation_p.R91C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	91	Extracellular (Potential).|Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTCACGCTTCGCGGCTTCTC	0.726												
PTPRF	5792	broad.mit.edu	37	1	44069129	44069129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:44069129G>A	uc001cjr.2	+	15	2723	c.2383G>A	c.(2383-2385)GTT>ATT	p.V795I	PTPRF_uc001cjs.2_Missense_Mutation_p.V786I|PTPRF_uc001cju.2_Missense_Mutation_p.V366I|PTPRF_uc009vwt.2_Missense_Mutation_p.V357I|PTPRF_uc001cjv.2_Missense_Mutation_p.V255I|PTPRF_uc001cjw.2_Missense_Mutation_p.V21I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	795	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCTACTCCGTTACTGTTGC	0.582												
ERI3	79033	broad.mit.edu	37	1	44713629	44713629	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:44713629G>A	uc001clt.2	-	8	1154	c.913C>T	c.(913-915)CGG>TGG	p.R305W	ERI3_uc010okv.1_Missense_Mutation_p.R128W|ERI3_uc009vxg.2_Missense_Mutation_p.R333W|ERI3_uc010okw.1_Missense_Mutation_p.R227W|ERI3_uc001clu.2_Intron	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	305	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						CTGTGGGGCCGGCCTATGTGT	0.607												
MAST2	23139	broad.mit.edu	37	1	46497141	46497141	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:46497141G>A	uc001cov.2	+	24	3354	c.3071G>A	c.(3070-3072)CGT>CAT	p.R1024H	MAST2_uc001cow.2_Missense_Mutation_p.R1024H|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1024					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGGCTGTGCGTAGGGCCCGC	0.627												
FOXD2	2306	broad.mit.edu	37	1	47905016	47905016	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:47905016C>T	uc001crm.2	+	1	3328	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	403	Gly-rich.|Ala-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0				READ - Rectum adenocarcinoma(2;0.0908)		GCGGCGGGGGCGCCGGGGCAG	0.761												
SLC5A9	200010	broad.mit.edu	37	1	48697257	48697257	+	Silent	SNP	G	G	A	rs61730938		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:48697257G>A	uc001cro.2	+	6	703	c.651G>A	c.(649-651)ACG>ACA	p.T217T	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.T242T|SLC5A9_uc010omt.1_Silent_p.T231T|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	217	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CTCTGCAGACGGTGATCATGG	0.547												
ELAVL4	1996	broad.mit.edu	37	1	50610682	50610682	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:50610682C>T	uc001csb.2	+	2	331	c.63C>T	c.(61-63)AGC>AGT	p.S21S	ELAVL4_uc001cry.3_Silent_p.S24S|ELAVL4_uc001crz.3_Silent_p.S21S|ELAVL4_uc001csa.3_Silent_p.S38S|ELAVL4_uc001csc.3_Silent_p.S21S|ELAVL4_uc009vyu.2_Silent_p.S26S|ELAVL4_uc010omz.1_Silent_p.S26S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	21					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						CCAATACAAGCAATGGACCCT	0.423												
ZFYVE9	9372	broad.mit.edu	37	1	52704611	52704611	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:52704611A>C	uc001cto.2	+	4	1694	c.1522A>C	c.(1522-1524)ATA>CTA	p.I508L	ZFYVE9_uc001ctn.2_Missense_Mutation_p.I508L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.I508L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	508					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						AGAAAAAGAAATAGAGGAAAG	0.393												
MYSM1	114803	broad.mit.edu	37	1	59131250	59131250	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:59131250A>G	uc009wab.1	-	17	2108	c.2085T>C	c.(2083-2085)TAT>TAC	p.Y695Y	MYSM1_uc009waa.1_Silent_p.Y101Y|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					TATTTCGATTATAGGGACTAA	0.333												
INADL	10207	broad.mit.edu	37	1	62240902	62240902	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62240902G>A	uc001dab.2	+	7	859	c.745G>A	c.(745-747)GTT>ATT	p.V249I	INADL_uc009waf.1_Missense_Mutation_p.V249I|INADL_uc001daa.2_Missense_Mutation_p.V249I|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	249	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TGTTGAAGAGGTTGAGCTCAT	0.413												
KANK4	163782	broad.mit.edu	37	1	62739457	62739457	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62739457A>G	uc001dah.3	-	3	1696	c.1319T>C	c.(1318-1320)ATG>ACG	p.M440T	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	440										ovary(3)|skin(2)|lung(1)	6						TTCAGACTCCATGCTGCCTAG	0.557												
LEPROT	54741	broad.mit.edu	37	1	65895721	65895721	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:65895721G>A	uc001dcf.2	+	3	358	c.269G>A	c.(268-270)CGT>CAT	p.R90H	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.R99H	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	90						endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTCTTGCTCGTGTGGCTGTG	0.433												
LRRC7	57554	broad.mit.edu	37	1	70504499	70504499	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:70504499G>A	uc001dep.2	+	19	2908	c.2878G>A	c.(2878-2880)GTG>ATG	p.V960M	LRRC7_uc009wbg.2_Missense_Mutation_p.V244M|LRRC7_uc001deq.2_Missense_Mutation_p.V201M	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	960						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TACATATAAGGTGTATAACAT	0.413												
IFI44L	10964	broad.mit.edu	37	1	79107202	79107202	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:79107202A>G	uc010oro.1	+	8	1411	c.1232A>G	c.(1231-1233)GAC>GGC	p.D411G	IFI44L_uc010orp.1_Missense_Mutation_p.D148G|IFI44L_uc010orq.1_Missense_Mutation_p.D148G	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	411						cytoplasm					0						TTGGAACTGGACCCCATGAAG	0.403												
TTLL7	79739	broad.mit.edu	37	1	84412914	84412914	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:84412914G>A	uc001djc.2	-	6	795	c.399C>T	c.(397-399)ATC>ATT	p.I133I	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	133	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAGCAGGAAAGATCCAAGTTC	0.338												
GBP7	388646	broad.mit.edu	37	1	89616127	89616127	+	Nonsense_Mutation	SNP	G	G	A	rs138285876	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:89616127G>A	uc001dna.2	-	6	896	c.757C>T	c.(757-759)CGA>TGA	p.R253*	GBP2_uc001dmy.1_RNA	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	253						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGTCTTCTCGTACTTCTTCA	0.418												
GBP5	115362	broad.mit.edu	37	1	89735134	89735134	+	Silent	SNP	C	C	T	rs150964952	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:89735134C>T	uc001dnc.2	-	3	642	c.105G>A	c.(103-105)ACG>ACA	p.T35T	GBP5_uc001dnd.2_Silent_p.T35T|GBP5_uc001dne.1_Silent_p.T35T	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	35						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTACAGGTTGCGTAATGGCAG	0.498												
DPYD	1806	broad.mit.edu	37	1	98058781	98058781	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:98058781G>T	uc001drv.2	-	10	1258	c.1121C>A	c.(1120-1122)CCT>CAT	p.P374H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	374					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACCTCCTCAGGGACAGCTCT	0.408												
LPPR4	9890	broad.mit.edu	37	1	99771804	99771804	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:99771804C>T	uc001dse.2	+	7	1636	c.1530C>T	c.(1528-1530)CCC>CCT	p.P510P	LPPR4_uc010oue.1_Silent_p.P452P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	510							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCGCTGTCCCCGGATGTAACA	0.552												
COL11A1	1301	broad.mit.edu	37	1	103488461	103488461	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:103488461T>C	uc001dul.2	-	8	1400	c.1082A>G	c.(1081-1083)GAA>GGA	p.E361G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E373G|COL11A1_uc001dun.2_Missense_Mutation_p.E322G|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	361	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTTTGTTTTCATATAGTGT	0.323												
KCNC4	3749	broad.mit.edu	37	1	110766118	110766118	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:110766118G>A	uc001dzh.2	+	2	1268	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	KCNC4_uc001dzf.2_Missense_Mutation_p.R404H|KCNC4_uc009wfr.2_Missense_Mutation_p.R404H|KCNC4_uc001dzg.2_Missense_Mutation_p.R404H|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	404					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACGCTGAGCGCATTGGGGCC	0.587												
CHI3L2	1117	broad.mit.edu	37	1	111773369	111773369	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:111773369G>A	uc001eam.2	+	3	147	c.76G>A	c.(76-78)GCC>ACC	p.A26T	CHI3L2_uc001ean.2_Missense_Mutation_p.A16T|CHI3L2_uc001eao.2_5'UTR|CHI3L2_uc009wga.2_5'UTR	NM_004000	NP_003991	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	26					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCCAGGATCTGCCTACAAACT	0.488												
DENND2C	163259	broad.mit.edu	37	1	115130365	115130365	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:115130365G>A	uc001efd.1	-	19	3342	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.D823D	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	880	dDENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGCTCTCGGTCCTGGATGA	0.413												
CSDE1	7812	broad.mit.edu	37	1	115272955	115272955	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:115272955C>T	uc001efk.2	-	12	1746	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H	CSDE1_uc001efi.2_Missense_Mutation_p.R473H|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R396H|CSDE1_uc001efm.2_Missense_Mutation_p.R442H|CSDE1_uc009wgv.2_Missense_Mutation_p.R427H|CSDE1_uc001efn.2_Missense_Mutation_p.R396H	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	427					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGAAAACGGTGATCTGA	0.383												
SEC22B	9554	broad.mit.edu	37	1	145109530	145109530	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145109530T>C	uc001eml.1	+	5	332	c.192T>C	c.(190-192)ATT>ATC	p.I64I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	64	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						CCAGCTACATTATTGAGCAGG	0.388												
ANKRD35	148741	broad.mit.edu	37	1	145560110	145560110	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145560110C>T	uc001eob.1	+	8	704	c.596C>T	c.(595-597)GCC>GTC	p.A199V	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A42V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	199	ANK 5.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGGCAGTGCCGAGGTGGCT	0.567												
POLR3C	10623	broad.mit.edu	37	1	145608468	145608468	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145608468G>A	uc001eoh.2	-	3	500	c.339C>T	c.(337-339)AAC>AAT	p.N113N	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.N126N|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.N113N	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	113					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCAGTTTGCCGTTCAACAGAA	0.468												
GJA5	2702	broad.mit.edu	37	1	147230449	147230449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:147230449G>A	uc001eps.1	-	2	1039	c.898C>T	c.(898-900)CAA>TAA	p.Q300*	GJA5_uc001ept.1_Nonsense_Mutation_p.Q300*	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	300	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCTCGTACTTGCTCGGTGACC	0.527												
SV2A	9900	broad.mit.edu	37	1	149882203	149882203	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:149882203G>A	uc001etg.2	-	5	1499	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	SV2A_uc001eth.2_Silent_p.F336F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	336	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGACGAGGACGAAGACCCTCC	0.587												
SF3B4	10262	broad.mit.edu	37	1	149898716	149898716	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:149898716C>T	uc001etj.1	-	3	309	c.258G>A	c.(256-258)GTG>GTA	p.V86V	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.V86V|SF3B4_uc009wll.1_Silent_p.V86V	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	86	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATGCTTTGTTCACCCGTATTG	0.428												
RPRD2	23248	broad.mit.edu	37	1	150445109	150445109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:150445109C>T	uc009wlr.2	+	11	3886	c.3685C>T	c.(3685-3687)CGA>TGA	p.R1229*	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Nonsense_Mutation_p.R1203*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1229	Pro-rich.						protein binding			ovary(1)	1						TATCTTCTCTCGAGATGCACC	0.597												
HRNR	388697	broad.mit.edu	37	1	152191461	152191461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:152191461G>A	uc001ezt.1	-	3	2720	c.2644C>T	c.(2644-2646)CGA>TGA	p.R882*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	882	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCATGTCGGCCGCGGCCC	0.632												
FLG	2312	broad.mit.edu	37	1	152286867	152286867	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:152286867T>C	uc001ezu.1	-	3	531	c.495A>G	c.(493-495)TCA>TCG	p.S165S	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	165					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGAGTAGGTGAATATCCTT	0.343									Ichthyosis			
C1orf43	25912	broad.mit.edu	37	1	154185102	154185102	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:154185102T>G	uc001fei.2	-	5	731	c.341_splice	c.e5-1	p.E114_splice	C1orf43_uc001fef.1_Splice_Site_p.E11_splice|C1orf43_uc001feg.2_Splice_Site_p.E80_splice|C1orf43_uc001feh.2_Splice_Site_p.K62_splice|C1orf43_uc001fej.2_Splice_Site_p.K96_splice|C1orf43_uc009wos.1_Splice_Site_p.K96_splice|C1orf43_uc001fek.2_Splice_Site_p.E114_splice|C1orf43_uc001fel.2_Splice_Site_p.E80_splice	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3							integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					ATGGGATCTCTGTGGAGAAAA	0.333												
ATP8B2	57198	broad.mit.edu	37	1	154316910	154316910	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:154316910C>T	uc001fex.2	+	20	2174	c.2174C>T	c.(2173-2175)ACG>ATG	p.T725M		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	711	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGATGCTGACGGATGACATG	0.562												
RUSC1	23623	broad.mit.edu	37	1	155291869	155291869	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:155291869G>C	uc001fkj.2	+	2	534	c.305G>C	c.(304-306)TGC>TCC	p.C102S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.C102S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	102						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GACCCAGGCTGCTCCTCCTCA	0.647												
GON4L	54856	broad.mit.edu	37	1	155735826	155735826	+	Silent	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:155735826A>C	uc001flz.2	-	21	3535	c.3438T>G	c.(3436-3438)ACT>ACG	p.T1146T	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.T1146T|GON4L_uc009wrh.1_Silent_p.T1146T|GON4L_uc001fma.1_Silent_p.T1146T|GON4L_uc001fmb.3_Silent_p.T342T|GON4L_uc001fmc.2_Silent_p.T1146T|GON4L_uc001fmd.3_Silent_p.T1146T|GON4L_uc009wri.2_Silent_p.T732T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1146					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGCAGGAACAGTGAAGATAA	0.532												
IQGAP3	128239	broad.mit.edu	37	1	156496285	156496285	+	Missense_Mutation	SNP	C	C	T	rs140982853	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156496285C>T	uc001fpf.2	-	38	4964	c.4889G>A	c.(4888-4890)CGG>CAG	p.R1630Q		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1630					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTCACTTCCGCAAAAACTT	0.488												
C1orf66	51093	broad.mit.edu	37	1	156704174	156704174	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156704174G>A	uc001fpu.2	+	6	1644	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	C1orf66_uc001fpv.2_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	337						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGGCCTTCGAACTCACTGC	0.667												
SPTA1	6708	broad.mit.edu	37	1	158581121	158581121	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:158581121G>T	uc001fst.1	-	52	7392	c.7193C>A	c.(7192-7194)CCA>CAA	p.P2398Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2398					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGACCCCGTGGGTCCATATA	0.438												
PIGM	93183	broad.mit.edu	37	1	160000853	160000853	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160000853G>T	uc001fuv.1	-	1	931	c.677C>A	c.(676-678)GCT>GAT	p.A226D		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	226	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCAGCACAGCCCGATTACA	0.478												
NCSTN	23385	broad.mit.edu	37	1	160326878	160326878	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160326878G>A	uc001fvx.2	+	16	1966	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	NCSTN_uc001fvy.2_Silent_p.T594T|NCSTN_uc010pjf.1_Silent_p.T476T|NCSTN_uc001fvz.2_Silent_p.T394T|NCSTN_uc010pjg.1_Silent_p.T356T	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	614	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAATGAGACGGACCGACTCC	0.537												
ITLN2	142683	broad.mit.edu	37	1	160914969	160914969	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160914969C>A	uc001fxd.2	-	8	997	c.939G>T	c.(937-939)CGG>CGT	p.R313R	ITLN2_uc009wts.2_Silent_p.R312R|ITLN2_uc010pju.1_Silent_p.R230R	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	313					signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGTTATCTCCCGACTGCAGC	0.562												
PVRL4	81607	broad.mit.edu	37	1	161046146	161046146	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:161046146G>A	uc001fxo.2	-	4	1149	c.850C>T	c.(850-852)CGG>TGG	p.R284W	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.R18W	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	284	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCCCTTACCGTGTCCAGTTG	0.547												
C1orf111	284680	broad.mit.edu	37	1	162344317	162344317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:162344317C>T	uc001gbx.2	-	3	371	c.307G>A	c.(307-309)GTG>ATG	p.V103M		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	103										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TCTGCACACACGAAGTAGCTG	0.572												
PAPPA2	60676	broad.mit.edu	37	1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:176762740G>A	uc001gkz.2	+	20	6229	c.5065G>A	c.(5065-5067)GTG>ATG	p.V1689M	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1689	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CAGTGACCCCGTGATGCTACC	0.473												
ASTN1	460	broad.mit.edu	37	1	176926901	176926901	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:176926901C>T	uc001glc.2	-	11	2012	c.1800G>A	c.(1798-1800)CCG>CCA	p.P600P	ASTN1_uc001glb.1_Silent_p.P600P|ASTN1_uc001gld.1_Silent_p.P600P|ASTN1_uc009wwx.1_Silent_p.P600P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	608	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGTCGCGCACCGGCCCAAAGG	0.547												
RALGPS2	55103	broad.mit.edu	37	1	178777241	178777241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:178777241C>T	uc001glz.2	+	5	613	c.275C>T	c.(274-276)GCC>GTC	p.A92V	RALGPS2_uc001gly.1_Missense_Mutation_p.A92V|RALGPS2_uc010pnb.1_Missense_Mutation_p.A92V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	92	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						AATGCAGTTGCCTTCACAAGA	0.289												
CEP350	9857	broad.mit.edu	37	1	179983022	179983022	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:179983022C>T	uc001gnt.2	+	10	1817	c.1434C>T	c.(1432-1434)GAC>GAT	p.D478D	CEP350_uc009wxl.2_Silent_p.D477D|CEP350_uc001gnu.2_Silent_p.D312D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	478						centrosome|nucleus|spindle				ovary(4)	4						CCAGGTTGGACGTTTTACATA	0.363												
LHX4	89884	broad.mit.edu	37	1	180235529	180235529	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:180235529G>A	uc001goe.1	+	3	474	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	84	LIM zinc-binding 1.		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CCTGACAGGCGCTTCGGCACA	0.622												
CFHR1	3078	broad.mit.edu	37	1	196801077	196801077	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:196801077G>A	uc001gtn.2	+	6	1055	c.941G>A	c.(940-942)CGA>CAA	p.R314Q	CFHR1_uc001gtm.2_Missense_Mutation_p.R218Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	314	Sushi 5.				complement activation	extracellular space					0						CACACATTGCGAACAACATGT	0.383												
FAM58B	339521	broad.mit.edu	37	1	200182790	200182790	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:200182790C>T	uc009wzi.1	+	1	135	c.99C>T	c.(97-99)CGC>CGT	p.R33R		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	33					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TGCACTTCCGCGTGGCGAGGT	0.433												
CACNA1S	779	broad.mit.edu	37	1	201043736	201043736	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201043736T>C	uc001gvv.2	-	14	2188	c.1961A>G	c.(1960-1962)AAT>AGT	p.N654S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	654	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGGAAGACATTGAGCAGGAT	0.582												
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201757711C>T	uc001gwu.2	+	10	3458	c.3111C>T	c.(3109-3111)GCC>GCT	p.A1037A	NAV1_uc001gwv.1_Silent_p.A545A|NAV1_uc001gww.1_Silent_p.A646A|NAV1_uc001gwx.2_Silent_p.A646A|NAV1_uc001gwy.1_Silent_p.A418A	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TGTCCCTGGCCGAGAGACCCA	0.617												
ADIPOR1	51094	broad.mit.edu	37	1	202920166	202920166	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:202920166C>A	uc001gyq.3	-	2	300	c.33G>T	c.(31-33)CAG>CAT	p.Q11H	ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_Translation_Start_Site|ADIPOR1_uc001gys.3_Missense_Mutation_p.Q11H	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	11	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCCATTCCCCTGTGCCACCA	0.587												
PPFIA4	8497	broad.mit.edu	37	1	203008205	203008205	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:203008205C>T	uc009xaj.2	+	6	510	c.510C>T	c.(508-510)GAC>GAT	p.D170D				O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CCGATGCTGACGCCAACTTCG	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CNTN2	6900	broad.mit.edu	37	1	205031679	205031679	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:205031679G>A	uc001hbr.2	+	10	1491	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	CNTN2_uc001hbq.1_Missense_Mutation_p.A299T|CNTN2_uc001hbs.2_Missense_Mutation_p.A196T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	408	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTACGCCAGCGCCGAGCTAGC	0.577												
KLHDC8A	55220	broad.mit.edu	37	1	205308421	205308421	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:205308421G>T	uc001hcf.1	-	4	1226	c.658C>A	c.(658-660)CTG>ATG	p.L220M	KLHDC8A_uc010prg.1_Missense_Mutation_p.L107M|KLHDC8A_uc001hcg.1_Missense_Mutation_p.L220M	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	220	Kelch 5.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGTTGTCCAGGGTCACAAAG	0.577												
C4BPA	722	broad.mit.edu	37	1	207287497	207287497	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207287497G>A	uc001hfo.2	+	3	389	c.195G>A	c.(193-195)ACG>ACA	p.T65T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	65	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TGGATATTACGTTGACTGAGA	0.473												
CR2	1380	broad.mit.edu	37	1	207643042	207643042	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207643042A>T	uc001hfw.2	+	6	914	c.820A>T	c.(820-822)ATT>TTT	p.I274F	CR2_uc001hfv.2_Missense_Mutation_p.I274F|CR2_uc009xch.2_Missense_Mutation_p.I274F|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	274	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TCCCCTAGAAATTTTTTGCCC	0.413												
CR1	1378	broad.mit.edu	37	1	207700196	207700196	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207700196G>A	uc001hfy.2	+	6	1125	c.985G>A	c.(985-987)GGC>AGC	p.G329S	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.G329S|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.G329S|CR1_uc010psh.1_5'Flank	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	329	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTGTGAGCCCGGCTACGACCT	0.577												
PTPN14	5784	broad.mit.edu	37	1	214557469	214557469	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:214557469T>C	uc001hkk.1	-	13	2000	c.1729A>G	c.(1729-1731)ACC>GCC	p.T577A	PTPN14_uc010pty.1_Missense_Mutation_p.T478A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	577					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGGTGCTGGTGGCAGGTCGT	0.637												
EPRS	2058	broad.mit.edu	37	1	220191840	220191840	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:220191840C>T	uc001hly.1	-	12	1715	c.1445G>A	c.(1444-1446)CGT>CAT	p.R482H	EPRS_uc010puf.1_Missense_Mutation_p.R233H|EPRS_uc001hlz.1_Missense_Mutation_p.R482H|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	482	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACGACTGAACGTGAGGAGCC	0.353												
TMEM63A	9725	broad.mit.edu	37	1	226062014	226062014	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:226062014G>A	uc001hpm.1	-	4	490	c.240C>T	c.(238-240)CGC>CGT	p.R80R	TMEM63A_uc010pvi.1_Silent_p.R80R	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	80						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CCAGGGCAATGCGGCCATAGT	0.318												
OBSCN	84033	broad.mit.edu	37	1	228564859	228564859	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:228564859G>A	uc009xez.1	+	101	23190	c.23146G>A	c.(23146-23148)GAA>AAA	p.E7716K	OBSCN_uc001hsr.1_Missense_Mutation_p.E2345K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7716	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTGCTGCGCGAATACGAGGC	0.677												
TTC13	79573	broad.mit.edu	37	1	231060705	231060705	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:231060705C>T	uc001huf.3	-	14	1634	c.1603G>A	c.(1603-1605)GCA>ACA	p.A535T	TTC13_uc009xfi.2_Missense_Mutation_p.A482T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.A482T|TTC13_uc009xfk.1_Missense_Mutation_p.A425T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	535							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACCTCCAATGCGGCCAAACCC	0.463												
SIPA1L2	57568	broad.mit.edu	37	1	232564165	232564165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232564165G>A	uc001hvg.2	-	15	4560	c.4402C>T	c.(4402-4404)CGA>TGA	p.R1468*	SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.R542*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1468					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCTTTCTTCGCCCCTCCTCC	0.403												
SIPA1L2	57568	broad.mit.edu	37	1	232579387	232579387	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232579387C>T	uc001hvg.2	-	10	3556	c.3398G>A	c.(3397-3399)GGC>GAC	p.G1133D	SIPA1L2_uc001hvf.2_Missense_Mutation_p.G207D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1133					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCGCTCCCGCCGGGTCCAGG	0.522												
SIPA1L2	57568	broad.mit.edu	37	1	232581486	232581486	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232581486C>T	uc001hvg.2	-	9	3300	c.3142G>A	c.(3142-3144)GAC>AAC	p.D1048N	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D122N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1048					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCTCGCTGTCGAGTTTATAT	0.582												
SIPA1L2	57568	broad.mit.edu	37	1	232650347	232650347	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232650347C>T	uc001hvg.2	-	1	897	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	247					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCTGTGCTGCTGCATGAAGG	0.493												
RYR2	6262	broad.mit.edu	37	1	237872296	237872296	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:237872296A>G	uc001hyl.1	+	69	10160	c.10040A>G	c.(10039-10041)GAC>GGC	p.D3347G	RYR2_uc010pxz.1_Missense_Mutation_p.D302G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3347					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCAGGGGGGACATGTCGGAG	0.483												
C1orf101	257044	broad.mit.edu	37	1	244715736	244715736	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:244715736T>C	uc001iam.2	+	9	708	c.649T>C	c.(649-651)TTT>CTT	p.F217L	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.F217L|C1orf101_uc010pym.1_Missense_Mutation_p.F66L|C1orf101_uc010pyn.1_Missense_Mutation_p.F150L	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	217	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTGTTGACTTTTCCTTTGTT	0.383												
KIF26B	55083	broad.mit.edu	37	1	245848855	245848855	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:245848855G>A	uc001ibf.1	+	12	3010	c.2570G>A	c.(2569-2571)AGC>AAC	p.S857N	KIF26B_uc001ibg.1_Missense_Mutation_p.S475N|KIF26B_uc001ibh.1_Missense_Mutation_p.S99N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	857					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TACTCCTCCAGCAGCGAGCAG	0.652												
OR2B11	127623	broad.mit.edu	37	1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	rs149375684	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:247614785G>A	uc010pyx.1	-	1	500	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592												
OR2L2	26246	broad.mit.edu	37	1	248202418	248202418	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:248202418G>A	uc001idw.2	+	1	945	c.849G>A	c.(847-849)ATG>ATA	p.M283I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCACCCCAATGCTCAACCCCA	0.468												
DIP2C	22982	broad.mit.edu	37	10	395292	395292	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:395292C>T	uc001ifp.2	-	25	3178	c.3088G>A	c.(3088-3090)GTG>ATG	p.V1030M	DIP2C_uc009xhi.1_Missense_Mutation_p.V416M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1030						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAAGGCCACGTGGTCGCCG	0.647												
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:410407C>T	uc001ifp.2	-	20	2474	c.2384G>A	c.(2383-2385)GGC>GAC	p.G795D	DIP2C_uc009xhi.1_Missense_Mutation_p.G181D|DIP2C_uc010pzz.1_Missense_Mutation_p.G116D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	795						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617												
AKR1C1	1645	broad.mit.edu	37	10	5014777	5014777	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:5014777G>A	uc001iho.2	+	12	1523	c.682G>A	c.(682-684)GTG>ATG	p.V228M	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.V228M	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	228	NADP (By similarity).				bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TCCTTCCAGGGTGGACCCGAA	0.592												
CALML5	51806	broad.mit.edu	37	10	5541225	5541225	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:5541225G>A	uc001iic.2	-	1	309	c.177C>T	c.(175-177)GAC>GAT	p.D59D		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	59	EF-hand 2.|2 (Potential).				epidermis development|signal transduction		calcium ion binding|protein binding				0						CGCCGTCGCCGTCGCTGTCAA	0.662												
SFMBT2	57713	broad.mit.edu	37	10	7214497	7214497	+	Missense_Mutation	SNP	C	C	T	rs148221260		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:7214497C>T	uc009xio.1	-	18	2202	c.2111G>A	c.(2110-2112)CGG>CAG	p.R704Q	SFMBT2_uc001ijn.1_Missense_Mutation_p.R704Q|SFMBT2_uc010qay.1_Missense_Mutation_p.R539Q	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	704					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						AGAAGACCTCCGTTTCTTCTG	0.637												
CUBN	8029	broad.mit.edu	37	10	16916494	16916494	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:16916494C>A	uc001ioo.2	-	58	9167	c.9115G>T	c.(9115-9117)GGT>TGT	p.G3039C	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.G395C	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3039	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAACACACCACCACAGGCT	0.393												
CUBN	8029	broad.mit.edu	37	10	16942694	16942694	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:16942694G>A	uc001ioo.2	-	53	8392	c.8340C>T	c.(8338-8340)GTC>GTT	p.V2780V	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V136V	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2780	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAAAGTCACGACCAGCTGAT	0.423												
SVIL	6840	broad.mit.edu	37	10	29754536	29754536	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:29754536C>T	uc001iut.1	-	34	6874	c.6121G>A	c.(6121-6123)GCG>ACG	p.A2041T	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.A955T|SVIL_uc001iuu.1_Missense_Mutation_p.A1615T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2041	Gelsolin-like 5.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GGCTGGGGCGCGCTGTACAGA	0.532												
ZEB1	6935	broad.mit.edu	37	10	31815671	31815671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:31815671C>T	uc001ivs.3	+	9	2917	c.2854C>T	c.(2854-2856)CGA>TGA	p.R952*	ZEB1_uc001ivr.3_Nonsense_Mutation_p.R734*|ZEB1_uc010qee.1_Nonsense_Mutation_p.R734*|ZEB1_uc010qef.1_Nonsense_Mutation_p.R734*|ZEB1_uc001ivt.3_Nonsense_Mutation_p.R734*|ZEB1_uc001ivu.3_Nonsense_Mutation_p.R953*|ZEB1_uc001ivv.3_Nonsense_Mutation_p.R932*|ZEB1_uc010qeh.1_Nonsense_Mutation_p.R885*|ZEB1_uc009xlp.2_Nonsense_Mutation_p.R936*	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	952	C2H2-type 6.				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TGAACACATGCGATTACATTC	0.363												
ZNF485	220992	broad.mit.edu	37	10	44112703	44112703	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:44112703T>C	uc010qfc.1	+	5	1406	c.1212T>C	c.(1210-1212)CAT>CAC	p.H404H	ZNF485_uc010qfd.1_Silent_p.H313H	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	404	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGACTCCATACTGGGGAAA	0.403												
PCDH15	65217	broad.mit.edu	37	10	55581859	55581859	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:55581859T>C	uc001jju.1	-	33	6022	c.5627A>G	c.(5626-5628)CAG>CGG	p.Q1876R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730R|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873R|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836R|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807R|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883R|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878R|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856R|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTTCTCTCTGAGGGTCTGT	0.393										HNSCC(58;0.16)		
CDH23	64072	broad.mit.edu	37	10	73544152	73544152	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:73544152G>A	uc001jrx.3	+	40	5854	c.5477G>A	c.(5476-5478)CGG>CAG	p.R1826Q		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1826	Cadherin 17.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCCCGTGACCGGGGGATGCCC	0.617												
CHST3	9469	broad.mit.edu	37	10	73767281	73767281	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:73767281G>A	uc001jsn.2	+	3	932	c.492G>A	c.(490-492)CCG>CCA	p.P164P		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	164	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						TCTTCGAGCCGCTGTGGCACA	0.672												
ANXA7	310	broad.mit.edu	37	10	75143004	75143004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:75143004G>A	uc001jtz.2	-	10	986	c.913C>T	c.(913-915)CGA>TGA	p.R305*	ANXA7_uc001jua.2_Nonsense_Mutation_p.R283*|ANXA7_uc001jub.2_Nonsense_Mutation_p.R243*|ANXA7_uc010qki.1_Nonsense_Mutation_p.R193*|ANXA7_uc009xre.2_Nonsense_Mutation_p.R212*|ANXA7_uc009xrf.1_Nonsense_Mutation_p.R225*	NM_004034	NP_004025	P20073	ANXA7_HUMAN	annexin VII isoform 2	305	Annexin 2.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCAAGGTCTCGTCCAAATTCT	0.413												
TSPAN14	81619	broad.mit.edu	37	10	82269142	82269142	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:82269142G>A	uc001kcj.3	+	5	472	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Missense_Mutation_p.R105Q	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	122						integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			GTGAGGGACCGGTTCCGGGAG	0.577												
MMRN2	79812	broad.mit.edu	37	10	88702923	88702923	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:88702923C>T	uc001kea.2	-	6	1745	c.1618G>A	c.(1618-1620)GTG>ATG	p.V540M	MMRN2_uc010qmn.1_Missense_Mutation_p.V183M|MMRN2_uc009xtb.2_Missense_Mutation_p.V497M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	540						extracellular space				large_intestine(1)	1						ACGGCGTCCACGGCGTTCTGC	0.746												
MYOF	26509	broad.mit.edu	37	10	95097652	95097652	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95097652A>G	uc001kin.2	-	40	4480	c.4357T>C	c.(4357-4359)TGG>CGG	p.W1453R	MYOF_uc001kio.2_Missense_Mutation_p.W1440R|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1453	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTACTCCACCAGTCCACGATT	0.398												
MYOF	26509	broad.mit.edu	37	10	95107459	95107459	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95107459G>A	uc001kin.2	-	37	4287	c.4164C>T	c.(4162-4164)GTC>GTT	p.V1388V	MYOF_uc001kio.2_Silent_p.V1375V|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1388	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						ACTGGCCGACGACAGGCTTCC	0.572												
PDLIM1	9124	broad.mit.edu	37	10	96997770	96997770	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:96997770A>G	uc001kkh.2	-	7	1011	c.902T>C	c.(901-903)GTG>GCG	p.V301A	PDLIM1_uc001kki.2_3'UTR|PDLIM1_uc009xuv.2_3'UTR|PDLIM1_uc001kkj.1_3'UTR	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	301	LIM zinc-binding.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTGATCCTCCACAAAGAAATG	0.537												
LDB1	8861	broad.mit.edu	37	10	103868036	103868036	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:103868036G>A	uc009xwz.2	-	11	1393	c.1050C>T	c.(1048-1050)TTC>TTT	p.F350F	LDB1_uc001kuk.3_Silent_p.F314F	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	350	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCTCGTCCCCGAACTCCCCGC	0.637												
PDCD11	22984	broad.mit.edu	37	10	105184857	105184857	+	Silent	SNP	C	C	T	rs142048126	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105184857C>T	uc001kwy.1	+	20	2967	c.2880C>T	c.(2878-2880)AAC>AAT	p.N960N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	960					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCACCTCAACGACACCTTCC	0.552												
CALHM2	51063	broad.mit.edu	37	10	105207116	105207116	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105207116C>T	uc001kwz.2	-	3	1151	c.765G>A	c.(763-765)GCG>GCA	p.A255A	CALHM2_uc001kxa.2_Silent_p.A255A|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.A255A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	255						integral to membrane				skin(1)	1						CCTTGTTGAGCGCCACAAAGC	0.597												
COL17A1	1308	broad.mit.edu	37	10	105815734	105815734	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105815734C>T	uc001kxr.2	-	18	1662	c.1493G>A	c.(1492-1494)CGT>CAT	p.R498H	COL17A1_uc010qqv.1_Missense_Mutation_p.R482H	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	498	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCATCCACACGCGCCTTCAG	0.597												
ITPRIP	85450	broad.mit.edu	37	10	106075664	106075664	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:106075664T>C	uc001kye.2	-	2	219	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	ITPRIP_uc001kyf.2_Missense_Mutation_p.Q49R|ITPRIP_uc001kyg.2_Missense_Mutation_p.Q49R	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	49	Potential.					plasma membrane					0						CTGCTCCAGCTGCAGCTTCTC	0.647												
ABLIM1	3983	broad.mit.edu	37	10	116417865	116417865	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:116417865G>A	uc010qsg.1	-	1	194	c.95C>T	c.(94-96)TCG>TTG	p.S32L	ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	32					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTTCTGTTCGAGCCCCTGGC	0.527												
GFRA1	2674	broad.mit.edu	37	10	117884986	117884986	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:117884986C>T	uc001lcj.2	-	6	1214	c.516G>A	c.(514-516)TCG>TCA	p.S172S	GFRA1_uc001lci.2_Silent_p.S167S|GFRA1_uc009xyr.2_Silent_p.S167S	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	172	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGATGTACGCCGACCTGTACT	0.577												
EIF3A	8661	broad.mit.edu	37	10	120795603	120795603	+	Missense_Mutation	SNP	C	C	T	rs143903271		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:120795603C>T	uc001ldu.2	-	22	4243	c.4097G>A	c.(4096-4098)CGT>CAT	p.R1366H	EIF3A_uc010qsu.1_Missense_Mutation_p.R1332H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1366					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTAGTACGACGGAGAGATTC	0.433												
PLEKHA1	59338	broad.mit.edu	37	10	124152742	124152742	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:124152742G>A	uc001lge.1	+	2	149	c.26G>A	c.(25-27)CGC>CAC	p.R9H	PLEKHA1_uc001lgf.1_Missense_Mutation_p.R9H|PLEKHA1_uc001lgg.1_Missense_Mutation_p.R9H|PLEKHA1_uc001lgh.2_Missense_Mutation_p.R9H	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	9	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGTCAGAATCGCATTTGTGGT	0.358												
C10orf90	118611	broad.mit.edu	37	10	128192609	128192609	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:128192609T>C	uc001ljq.2	-	3	1281	c.1160A>G	c.(1159-1161)GAA>GGA	p.E387G	C10orf90_uc001ljp.2_Missense_Mutation_p.E340G|C10orf90_uc010qum.1_Missense_Mutation_p.E484G|C10orf90_uc009yao.2_Missense_Mutation_p.E484G|C10orf90_uc001ljs.1_Missense_Mutation_p.E340G	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	387										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ATGGTCCTTTTCCCCTTTTCT	0.498											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MKI67	4288	broad.mit.edu	37	10	129914169	129914169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:129914169G>A	uc001lke.2	-	7	698	c.503C>T	c.(502-504)GCA>GTA	p.A168V	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	168					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGTCATCTGCGGTACTGTC	0.423												
MKI67	4288	broad.mit.edu	37	10	129921193	129921193	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:129921193A>G	uc001lke.2	-	4	434	c.239T>C	c.(238-240)GTA>GCA	p.V80A	MKI67_uc001lkf.2_Missense_Mutation_p.V80A|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	80					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTTAGCCGTACAGGCTCATC	0.353												
KNDC1	85442	broad.mit.edu	37	10	134981025	134981025	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:134981025G>A	uc001llz.1	+	2	244	c.243G>A	c.(241-243)ACG>ACA	p.T81T	KNDC1_uc001lma.1_Silent_p.T16T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	81	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTGCATCACGCCCGACACCC	0.577												
DEAF1	10522	broad.mit.edu	37	11	688355	688355	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:688355C>A	uc001lqq.1	-	3	1186	c.493G>T	c.(493-495)GGC>TGC	p.G165C	DEAF1_uc009ycf.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	165					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCTGCCGGGCCTTTCAGCCCG	0.562												
MUC2	4583	broad.mit.edu	37	11	1090881	1090881	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1090881C>T	uc001lsx.1	+	28	3803	c.3776C>T	c.(3775-3777)ACG>ATG	p.T1259M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1259						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTTCCATTACGACACGCCCG	0.383												
MUC5B	727897	broad.mit.edu	37	11	1267081	1267081	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1267081T>C	uc009ycr.1	+	49	10846	c.10720T>C	c.(10720-10722)TGG>CGG	p.W3574R	MUC5B_uc001ltb.2_Missense_Mutation_p.W2994R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2991	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGGACGACCTGGATCCTCAC	0.637												
CTSD	1509	broad.mit.edu	37	11	1774895	1774895	+	Silent	SNP	C	C	T	rs138940129	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1774895C>T	uc001luc.1	-	9	1210	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	359					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCGGCCTGCGACACCTGGG	0.711												
CHRNA10	57053	broad.mit.edu	37	11	3688473	3688473	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:3688473A>G	uc001lyf.2	-	4	956	c.884T>C	c.(883-885)GTG>GCG	p.V295A	CHRNA10_uc010qxt.1_Missense_Mutation_p.V89A|CHRNA10_uc010qxu.1_Missense_Mutation_p.V89A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	295					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GATGAGCGGCACGCTCTCGGC	0.736												
NUP98	4928	broad.mit.edu	37	11	3800453	3800453	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:3800453A>C	uc001lyh.2	-	3	402	c.111T>G	c.(109-111)TTT>TTG	p.F37L	NUP98_uc001lyi.2_Missense_Mutation_p.F37L|NUP98_uc001lyj.1_Missense_Mutation_p.F37L|NUP98_uc001lyk.1_Missense_Mutation_p.F37L|NUP98_uc010qxv.1_Missense_Mutation_p.F37L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	37	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGATGTTCCAAATGCCCCTC	0.378			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
TRIM68	55128	broad.mit.edu	37	11	4622048	4622048	+	Missense_Mutation	SNP	G	G	A	rs143401810	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:4622048G>A	uc001lzf.1	-	7	1154	c.916C>T	c.(916-918)CGC>TGC	p.R306C	TRIM68_uc001lzg.1_Missense_Mutation_p.R83C|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	306	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGATCCAAGCGCACATCAGCT	0.488												
TRIM5	85363	broad.mit.edu	37	11	5701381	5701381	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:5701381T>C	uc001mbm.1	-	2	284	c.27A>G	c.(25-27)GTA>GTG	p.V9V	TRIM5_uc001mbq.1_Silent_p.V9V|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.V9V|TRIM5_uc001mbo.2_Silent_p.V9V|TRIM5_uc001mbp.2_Silent_p.V9V	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	9					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTCCTCCTTTACATTAACCA	0.557												
OR56A3	390083	broad.mit.edu	37	11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:5968802G>A	uc010qzt.1	+	1	226	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587												
DNHD1	144132	broad.mit.edu	37	11	6592478	6592478	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:6592478G>A	uc001mdw.3	+	42	14300	c.13736G>A	c.(13735-13737)CGC>CAC	p.R4579H	DNHD1_uc001mea.3_Missense_Mutation_p.R848H|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.R847H|DNHD1_uc010rao.1_Missense_Mutation_p.R837H|DNHD1_uc009yfg.2_Missense_Mutation_p.R204H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4579					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTACCAGAGCGCGTCTTCCAC	0.652												
DCHS1	8642	broad.mit.edu	37	11	6648207	6648207	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:6648207G>A	uc001mem.1	-	14	6473	c.6063C>T	c.(6061-6063)CGC>CGT	p.R2021R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2021	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGGCCACGCGGATTTCAC	0.582												
ARNTL	406	broad.mit.edu	37	11	13398205	13398205	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:13398205C>T	uc001mkr.2	+	16	1752	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	ARNTL_uc001mko.2_Silent_p.G404G|ARNTL_uc001mkp.2_Silent_p.G447G|ARNTL_uc001mkq.2_Silent_p.G447G|ARNTL_uc001mks.2_Silent_p.G405G|ARNTL_uc001mkt.2_Silent_p.G448G|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Silent_p.G405G|ARNTL_uc001mkx.2_Silent_p.G446G|ARNTL_uc001mky.2_5'UTR	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	448					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		TCCTGGAAGGCGGGGACCCAA	0.587												
COPB1	1315	broad.mit.edu	37	11	14502625	14502625	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:14502625G>A	uc001mli.2	-	9	1283	c.976C>T	c.(976-978)CTA>TTA	p.L326L	COPB1_uc001mlg.2_Silent_p.L326L|COPB1_uc001mlh.2_Silent_p.L326L	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	326	HEAT 5.				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						AATACTCTTAGGATATCCATA	0.368												
INSC	387755	broad.mit.edu	37	11	15170767	15170767	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:15170767C>A	uc001mly.2	+	2	234	c.188C>A	c.(187-189)CCG>CAG	p.P63Q	INSC_uc001mlz.2_Missense_Mutation_p.P16Q|INSC_uc001mma.2_Missense_Mutation_p.P16Q|INSC_uc010rcs.1_Missense_Mutation_p.P16Q|INSC_uc001mmb.2_Missense_Mutation_p.P16Q|INSC_uc001mmc.2_Missense_Mutation_p.P16Q	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	63					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GTCACCCTGCCGGGTCAGCGG	0.607												
ABCC8	6833	broad.mit.edu	37	11	17482094	17482094	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:17482094G>A	uc001mnc.2	-	6	1078	c.952C>T	c.(952-954)CTG>TTG	p.L318L	ABCC8_uc010rcy.1_Silent_p.L317L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	318	Helical; Name=6; (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGATGCACAGTGGCCCGGCG	0.642												
MRGPRX4	117196	broad.mit.edu	37	11	18194924	18194924	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:18194924G>A	uc001mnv.1	+	1	541	c.121G>A	c.(121-123)GGA>AGA	p.G41R		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						TTCCCTTGTCGGACTGACAGG	0.557												
E2F8	79733	broad.mit.edu	37	11	19256571	19256571	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:19256571G>A	uc001mpm.2	-	5	1008	c.486C>T	c.(484-486)AAC>AAT	p.N162N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N162N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	162	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCTCTAGGACGTTCACGATAT	0.428												
QSER1	79832	broad.mit.edu	37	11	32956281	32956281	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:32956281C>T	uc001mty.2	+	4	3357	c.3090C>T	c.(3088-3090)GAC>GAT	p.D1030D	QSER1_uc001mtz.1_Silent_p.D791D|QSER1_uc001mua.2_Silent_p.D535D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1030										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TAGGGGGTGACGACAGTGGTG	0.433												
C11orf41	25758	broad.mit.edu	37	11	33565125	33565125	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:33565125G>A	uc001mup.3	+	1	1249	c.1125G>A	c.(1123-1125)TCG>TCA	p.S375S	C11orf41_uc001mun.1_Silent_p.S375S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	375						integral to membrane				ovary(2)	2						TGAGAGCATCGCCCTCCTCCA	0.483											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYBPC3	4607	broad.mit.edu	37	11	47357492	47357492	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47357492C>T	uc001nfa.3	-	25	2728	c.2673G>A	c.(2671-2673)CGG>CGA	p.R891R	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	890	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GCTCTGGGGGCCGCCACTTGA	0.677												
MYBPC3	4607	broad.mit.edu	37	11	47364636	47364636	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47364636C>T	uc001nfa.3	-	14	1342	c.1287G>A	c.(1285-1287)GCG>GCA	p.A429A	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	428	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CTGCGTCGTCCGCCAATGAGC	0.617												
MYBPC3	4607	broad.mit.edu	37	11	47365114	47365114	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47365114G>A	uc001nfa.3	-	13	1207	c.1152C>T	c.(1150-1152)ACC>ACT	p.T384T	MYBPC3_uc010rhl.1_5'Flank	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	384	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CCAGTTCCACGGTCAGCCGGA	0.652												
AGBL2	79841	broad.mit.edu	37	11	47681799	47681799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47681799T>C	uc001ngg.2	-	18	2735	c.2635A>G	c.(2635-2637)AGA>GGA	p.R879G	AGBL2_uc001ngf.2_RNA	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	879					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GCAGGATATCTGCTCCTAGGC	0.522												
OR8H1	219469	broad.mit.edu	37	11	56057917	56057917	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:56057917C>T	uc010rje.1	-	1	622	c.622G>A	c.(622-624)GTG>ATG	p.V208M		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					ATAAGGGACACCATCAGGGTG	0.418												
OR5M1	390168	broad.mit.edu	37	11	56380954	56380954	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:56380954C>T	uc001nja.1	-	1	25	c.25G>A	c.(25-27)GTG>ATG	p.V9M		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AATTCTGTCACTATGGTGTGG	0.428												
OR5B12	390191	broad.mit.edu	37	11	58207240	58207240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:58207240G>A	uc010rkh.1	-	1	385	c.385C>T	c.(385-387)CAT>TAT	p.H129Y		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGTGTAATGCAGGGGTTTA	0.458												
TMEM132A	54972	broad.mit.edu	37	11	60703479	60703479	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60703479C>T	uc001nqj.2	+	11	2365	c.2172C>T	c.(2170-2172)CTC>CTT	p.L724L	TMEM132A_uc001nqi.2_Silent_p.L725L|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	724	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GTGCCCAGCTCGGGGTGGTGG	0.731												
CD6	923	broad.mit.edu	37	11	60777348	60777348	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60777348T>C	uc001nqq.2	+	5	1307	c.1084_splice	c.e5+2	p.A362_splice	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Splice_Site_p.A362_splice|CD6_uc001nqr.2_Splice_Site_p.A362_splice|CD6_uc001nqs.2_Splice_Site|CD6_uc001nqt.2_Splice_Site_p.A362_splice	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor						cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCTGCTCAGGTACCCCATCCT	0.557												
CD5	921	broad.mit.edu	37	11	60892565	60892565	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60892565C>A	uc009ynk.2	+	9	1444	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	447	Cytoplasmic (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCACAGCCTCCCACGTGGATA	0.597												
CHRM1	1128	broad.mit.edu	37	11	62677864	62677864	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62677864T>C	uc001nwi.2	-	2	1110	c.709A>G	c.(709-711)AGC>GGC	p.S237G		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	237	Cytoplasmic (Potential).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTGCTGCTGCTGCCACCCCCT	0.677												
SLC22A8	9376	broad.mit.edu	37	11	62760719	62760719	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62760719C>T	uc001nwo.2	-	11	1755	c.1619G>A	c.(1618-1620)GGC>GAC	p.G540D	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.G417D|SLC22A8_uc010rmm.1_Missense_Mutation_p.G449D|SLC22A8_uc009yon.2_Missense_Mutation_p.G540D	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	540	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TCAGCTGGAGCCCAGGCCTGG	0.602												
PLA2G16	11145	broad.mit.edu	37	11	63357702	63357702	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:63357702G>A	uc001nxh.2	-	3	680	c.257C>T	c.(256-258)CCG>CTG	p.P86L	PLA2G16_uc001nxi.2_Missense_Mutation_p.P98L|PLA2G16_uc009you.1_Missense_Mutation_p.P86L	NM_007069	NP_009000	P53816	PAG16_HUMAN	HRAS-like suppressor 3	86					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			ovary(1)	1						GCAGGGCAGCGGCGAGTACTT	0.547												
FLRT1	23769	broad.mit.edu	37	11	63883777	63883777	+	Missense_Mutation	SNP	C	C	T	rs139768227	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:63883777C>T	uc001nyi.1	+	2	379	c.38C>T	c.(37-39)ACG>ATG	p.T13M	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	Error:Variant_position_missing_in_Q9NZU1_after_alignment					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						gccaccaccacgcccactgcc	0.418												
SLC22A12	116085	broad.mit.edu	37	11	64367173	64367173	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:64367173G>A	uc001oam.1	+	7	1843	c.1096G>A	c.(1096-1098)GGC>AGC	p.G366S	SLC22A12_uc001oal.1_Missense_Mutation_p.G145S|SLC22A12_uc009yps.1_Missense_Mutation_p.G332S|SLC22A12_uc001oan.1_Missense_Mutation_p.G258S|SLC22A12_uc009ypt.2_Missense_Mutation_p.G184S	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	366	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CACCTTCTTCGGCCTGGCCCT	0.383												
NAALADL1	10004	broad.mit.edu	37	11	64821729	64821729	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:64821729C>A	uc001ocn.2	-	6	1001	c.985G>T	c.(985-987)GCA>TCA	p.A329S	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	329	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CACCTGTCTGCTGGGAAGTCT	0.612												
TIGD3	220359	broad.mit.edu	37	11	65123482	65123482	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65123482G>A	uc001odo.3	+	2	366	c.203G>A	c.(202-204)CGC>CAC	p.R68H		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	68	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AACCGAGAGCGCAAGCGCAAG	0.652												
KCNK7	10089	broad.mit.edu	37	11	65361010	65361010	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65361010G>A	uc001oes.2	-	2	879	c.655C>T	c.(655-657)CTG>TTG	p.L219L	KCNK7_uc001oeq.2_Silent_p.L219L|KCNK7_uc001oer.2_Silent_p.L219L|KCNK7_uc001oeu.2_Silent_p.L219L	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	219						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CGGCCGGGCAGCAAGTCCTCC	0.667												
PCNXL3	399909	broad.mit.edu	37	11	65403961	65403961	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65403961C>A	uc001oey.2	+	34	5693	c.5693C>A	c.(5692-5694)CCT>CAT	p.P1898H	PCNXL3_uc001oez.2_Missense_Mutation_p.P785H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1898	Gly-rich.					integral to membrane					0						CTGCAGTGGCCTCCCCCTCGG	0.721												
ACTN3	89	broad.mit.edu	37	11	66325170	66325170	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66325170C>T	uc001oio.1	+	10	916	c.898C>T	c.(898-900)CTG>TTG	p.L300L	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	300	Spectrin 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						GCCCTGTCAGCTGCTGGAGTG	0.642												
SPTBN2	6712	broad.mit.edu	37	11	66483313	66483313	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66483313C>T	uc001ojd.2	-	3	369	c.297G>A	c.(295-297)TCG>TCA	p.S99S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	99	CH 1.|Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTATCTCTCCCGAGAGCACCT	0.627												
CABP2	51475	broad.mit.edu	37	11	67287382	67287382	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:67287382G>A	uc001omc.1	-	6	621	c.519C>T	c.(517-519)AGC>AGT	p.S173S	CABP2_uc001omd.1_Silent_p.S116S|CABP2_uc001ome.1_Silent_p.S179S	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	173	EF-hand 3.|2 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						GCTCGCCCACGCTGATGCGGC	0.677												
LRP5	4041	broad.mit.edu	37	11	68181349	68181349	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:68181349G>A	uc001ont.2	+	12	2771	c.2696G>A	c.(2695-2697)CGC>CAC	p.R899H	LRP5_uc009ysg.2_Missense_Mutation_p.R309H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	899	Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CACTCCTCCCGCCAGGATGGC	0.642												
MTL5	9633	broad.mit.edu	37	11	68483408	68483408	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:68483408C>A	uc001ooc.2	-	7	1058	c.918_splice	c.e7-1	p.G306_splice		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform						cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCACAGTACCTGTGAAGGAA	0.463												
NADSYN1	55191	broad.mit.edu	37	11	71183524	71183524	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:71183524T>C	uc001oqn.2	+	6	563	c.437T>C	c.(436-438)ATG>ACG	p.M146T	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	146	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCCTCGGATGATACAGGAC	0.552												
MRPL48	51642	broad.mit.edu	37	11	73570971	73570971	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:73570971A>G	uc001ouh.3	+	6	491	c.391A>G	c.(391-393)ACC>GCC	p.T131A	MRPL48_uc009ytt.2_Missense_Mutation_p.T32A|MRPL48_uc010rri.1_Missense_Mutation_p.T113A|MRPL48_uc009ytu.2_Missense_Mutation_p.T32A	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor	131					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						GCCAACCAAAACCATAGAAGT	0.493												
C2CD3	26005	broad.mit.edu	37	11	73785543	73785543	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:73785543T>C	uc001ouu.2	-	24	4933	c.4706A>G	c.(4705-4707)CAT>CGT	p.H1569R	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1569						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTCCAGCTCATGAGTGGGCTC	0.537												
KLHL35	283212	broad.mit.edu	37	11	75139513	75139513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:75139513G>A	uc001owm.1	-	2	599	c.380C>T	c.(379-381)GCT>GTT	p.A127V		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	kelch-like 35	127	Kelch 1.										0						ATTGCGGAGAGCACAGGCGGC	0.637												
CAPN5	726	broad.mit.edu	37	11	76831954	76831954	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:76831954C>T	uc001oxx.2	+	10	1671	c.1486C>T	c.(1486-1488)CGG>TGG	p.R496W	CAPN5_uc009yup.2_Missense_Mutation_p.R536W|CAPN5_uc009yuq.2_Missense_Mutation_p.R532W|CAPN5_uc001oxy.2_Missense_Mutation_p.R536W|CAPN5_uc001oya.2_Missense_Mutation_p.R58W	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	496	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTCCAACTGCCGGTACTTGGG	0.617												
MYO7A	4647	broad.mit.edu	37	11	76910654	76910654	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:76910654T>C	uc001oyb.2	+	35	4915	c.4643T>C	c.(4642-4644)CTG>CCG	p.L1548P	MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1548	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						TGGGCAGGACTGACCCCGGCG	0.637												
KCTD21	283219	broad.mit.edu	37	11	77885584	77885584	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GACGTTCAGCGTGATGGGGTC	0.552												
ODZ4	26011	broad.mit.edu	37	11	78380838	78380838	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:78380838T>C	uc001ozl.3	-	32	7015	c.6552A>G	c.(6550-6552)GGA>GGG	p.G2184G	ODZ4_uc001ozk.3_Silent_p.G409G|ODZ4_uc009yvb.1_Silent_p.G768G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2184	YD 17.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TGGCGTAGGGTCCTACCTTCA	0.522												
EED	8726	broad.mit.edu	37	11	85963259	85963259	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:85963259T>C	uc001pbp.2	+	3	794	c.337T>C	c.(337-339)TTT>CTT	p.F113L	EED_uc010rtm.1_Missense_Mutation_p.F113L|EED_uc001pbq.2_Missense_Mutation_p.F113L|EED_uc001pbr.2_Missense_Mutation_p.F113L|EED_uc001pbs.2_Missense_Mutation_p.F113L	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	113	Interaction with EZH2 (By similarity).|WD 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCCATTAGTGTTTGCAACTGT	0.328												
TYR	7299	broad.mit.edu	37	11	88911805	88911805	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:88911805T>C	uc001pcs.2	+	1	766	c.684T>C	c.(682-684)GAT>GAC	p.D228D		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	228	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGACAGGAGATGAAAACTTCA	0.468									Oculocutaneous_Albinism			
ANGPTL5	253935	broad.mit.edu	37	11	101775632	101775632	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:101775632C>T	uc001pgl.2	-	5	948	c.352G>A	c.(352-354)GAG>AAG	p.E118K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	118	Potential.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTCATGAGCTCGTTAACCTAA	0.373												
KIAA1377	57562	broad.mit.edu	37	11	101834251	101834251	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:101834251C>T	uc001pgm.2	+	6	2755	c.2485C>T	c.(2485-2487)CCT>TCT	p.P829S	KIAA1377_uc001pgn.2_Missense_Mutation_p.P785S|KIAA1377_uc010run.1_Missense_Mutation_p.P630S|KIAA1377_uc009yxa.1_Missense_Mutation_p.P630S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	829							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCTGAAAATCCTCAAAACAT	0.338												
DRD2	1813	broad.mit.edu	37	11	113295137	113295137	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113295137G>A	uc001pnz.2	-	1	558	c.237C>T	c.(235-237)GCC>GCT	p.A79A	DRD2_uc010rwv.1_Silent_p.A79A|DRD2_uc001poa.3_Silent_p.A79A|DRD2_uc001pob.3_Silent_p.A79A|DRD2_uc009yyr.1_Silent_p.A79A	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	79	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGAGGAGGTCGGCCACTGCGA	0.632												
HTR3A	3359	broad.mit.edu	37	11	113857318	113857318	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113857318G>A	uc010rxb.1	+	7	1035	c.802G>A	c.(802-804)GTG>ATG	p.V268M	HTR3A_uc010rxa.1_Missense_Mutation_p.V268M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V247M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	262	Helical; Name=1; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGGACATCGTGGGCTTCTA	0.577												
HTR3A	3359	broad.mit.edu	37	11	113857683	113857683	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113857683C>T	uc010rxb.1	+	7	1400	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	HTR3A_uc010rxa.1_Silent_p.I357I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I336I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	351	Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGAGAGAATCGCCTGGCTAC	0.582												
TMPRSS13	84000	broad.mit.edu	37	11	117780651	117780651	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117780651C>T	uc001prs.1	-	8	1072	c.979G>A	c.(979-981)GTG>ATG	p.V327M	TMPRSS13_uc009yzr.1_Missense_Mutation_p.V6M|TMPRSS13_uc001prt.1_Missense_Mutation_p.V6M|TMPRSS13_uc001pru.1_Missense_Mutation_p.V327M	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	322	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCCCTCCCACGATCCGCCCG	0.612												
IL10RA	3587	broad.mit.edu	37	11	117869864	117869864	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117869864C>T	uc001prv.2	+	7	1322	c.1245C>T	c.(1243-1245)GAC>GAT	p.D415D	IL10RA_uc010rxl.1_Silent_p.D395D|IL10RA_uc010rxm.1_Silent_p.D395D|IL10RA_uc010rxn.1_Silent_p.D266D|IL10RA_uc001prw.2_Silent_p.D266D	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	415	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGGCTGGGGACACACAGGGTG	0.642												
VWA5A	4013	broad.mit.edu	37	11	124016059	124016059	+	Missense_Mutation	SNP	G	G	A	rs144882371	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:124016059G>A	uc001pzu.2	+	18	2479	c.2270G>A	c.(2269-2271)CGT>CAT	p.R757H	VWA5A_uc001pzt.2_Missense_Mutation_p.R757H	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	757			R -> C.							upper_aerodigestive_tract(1)|ovary(1)	2						GCCTGGATGCGTGCCCATGCA	0.597												
SPA17	53340	broad.mit.edu	37	11	124564263	124564263	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:124564263G>A	uc001qap.2	+	5	513	c.377G>A	c.(376-378)CGG>CAG	p.R126Q		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	126	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GCTGCCTTCCGGGGACACATA	0.413												
WNT5B	81029	broad.mit.edu	37	12	1755054	1755054	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:1755054G>A	uc009zdq.2	+	5	958	c.716G>A	c.(715-717)CGC>CAC	p.R239H	WNT5B_uc001qjj.2_Missense_Mutation_p.R239H|WNT5B_uc001qjk.2_Missense_Mutation_p.R239H|WNT5B_uc001qjl.2_Missense_Mutation_p.R239H	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	239					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCCGAGTTCCGCAAGGTCGGG	0.657												
CACNA1C	775	broad.mit.edu	37	12	2595422	2595422	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2595422A>G	uc009zdu.1	+	6	1223	c.910A>G	c.(910-912)ATA>GTA	p.I304V	CACNA1C_uc009zdv.1_Missense_Mutation_p.I304V|CACNA1C_uc001qkb.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkc.2_Missense_Mutation_p.I304V|CACNA1C_uc001qke.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkf.2_Missense_Mutation_p.I304V|CACNA1C_uc001qjz.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkd.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkg.2_Missense_Mutation_p.I304V|CACNA1C_uc009zdw.1_Missense_Mutation_p.I304V|CACNA1C_uc001qkh.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkl.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkn.2_Missense_Mutation_p.I304V|CACNA1C_uc001qko.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkp.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkr.2_Missense_Mutation_p.I304V|CACNA1C_uc001qku.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkq.2_Missense_Mutation_p.I304V|CACNA1C_uc001qks.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkt.2_Missense_Mutation_p.I304V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkj.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkk.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkm.1_Missense_Mutation_p.I40V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	304	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGGAGGGCATAGCAGGTAA	0.587												
CACNA1C	775	broad.mit.edu	37	12	2691997	2691997	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2691997G>A	uc009zdu.1	+	15	2426	c.2113G>A	c.(2113-2115)GGG>AGG	p.G705R	CACNA1C_uc009zdv.1_Missense_Mutation_p.G702R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G705R|CACNA1C_uc001qke.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G705R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G705R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G705R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G705R|CACNA1C_uc001qko.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G705R|CACNA1C_uc001qku.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G705R|CACNA1C_uc001qks.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G705R|CACNA1C_uc001qka.1_Missense_Mutation_p.G240R|CACNA1C_uc001qki.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkj.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkk.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkm.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkw.2_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	705	II.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTGACCGGGGAGGACTG	0.493												
FOXM1	2305	broad.mit.edu	37	12	2973571	2973571	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2973571G>A	uc001qlf.2	-	8	1446	c.1181C>T	c.(1180-1182)TCG>TTG	p.S394L	FOXM1_uc001qle.2_Missense_Mutation_p.S394L|FOXM1_uc001qlg.2_Missense_Mutation_p.S379L|FOXM1_uc009zea.2_Missense_Mutation_p.S379L|FOXM1_uc009zeb.2_Missense_Mutation_p.S378L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	394					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CACCTTCACCGAGGGCTGCAA	0.592												
VWF	7450	broad.mit.edu	37	12	6128813	6128813	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6128813C>T	uc001qnn.1	-	28	4021	c.3771G>A	c.(3769-3771)CTG>CTA	p.L1257L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1257					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCTCCACATACAGAGTGGTGG	0.622												
TAPBPL	55080	broad.mit.edu	37	12	6566754	6566754	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6566754C>T	uc001qog.3	+	4	986	c.748C>T	c.(748-750)CGG>TGG	p.R250W	TAPBPL_uc001qoh.3_Missense_Mutation_p.R108W|TAPBPL_uc001qoi.1_Intron	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	250	Lumenal (Potential).|Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						GCAGGCTGTGCGGAAGGGCGC	0.652												
NCAPD2	9918	broad.mit.edu	37	12	6634802	6634802	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6634802G>A	uc001qoo.2	+	18	2314	c.2268G>A	c.(2266-2268)CTG>CTA	p.L756L	NCAPD2_uc009zen.1_Silent_p.L628L|NCAPD2_uc010sfd.1_Silent_p.L711L	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	756					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CCCAGCTGCTGTGGGAGCGGG	0.517												
MLF2	8079	broad.mit.edu	37	12	6861111	6861111	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6861111C>T	uc010sfi.1	-	3	223	c.160G>A	c.(160-162)GCC>ACC	p.A54T	MLF2_uc001qqp.2_Missense_Mutation_p.A54T|MLF2_uc009zey.1_Missense_Mutation_p.A54T	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	54					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGGCGGCTGGCAGGCCTGGTC	0.507												
SLC2A3	6515	broad.mit.edu	37	12	8075523	8075523	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:8075523A>G	uc001qtr.2	-	9	1428	c.1166T>C	c.(1165-1167)GTG>GCG	p.V389A		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	389	Helical; Name=10; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		GAGTTCGGCCACAATAAACCA	0.547												
DUSP16	80824	broad.mit.edu	37	12	12630702	12630702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:12630702C>T	uc001rao.1	-	7	1695	c.1063G>A	c.(1063-1065)GTG>ATG	p.V355M	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.V207M	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	355					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		gCGGGATGCACGGGCCTTTGT	0.552												
ABCC9	10060	broad.mit.edu	37	12	22035726	22035726	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:22035726C>T	uc001rfi.1	-	14	2013	c.1993G>A	c.(1993-1995)GCA>ACA	p.A665T	ABCC9_uc001rfh.2_Missense_Mutation_p.A665T|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	665	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTTTCTGCGGGACGTAGA	0.378												
ETNK1	55500	broad.mit.edu	37	12	22826468	22826468	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:22826468T>C	uc001rft.2	+	6	1108	c.1086T>C	c.(1084-1086)GAT>GAC	p.D362D	ETNK1_uc009ziz.2_Silent_p.D362D	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	362					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						TGTATCCAGATAGAGAACTAC	0.358												
CASC1	55259	broad.mit.edu	37	12	25297610	25297610	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:25297610G>T	uc001rgl.2	-	8	755	c.673C>A	c.(673-675)CAC>AAC	p.H225N	CASC1_uc001rgk.2_Missense_Mutation_p.H231N|CASC1_uc001rgm.3_Missense_Mutation_p.H289N|CASC1_uc001rgj.2_Missense_Mutation_p.H185N|CASC1_uc010sje.1_Missense_Mutation_p.H166N|CASC1_uc010sjf.1_Missense_Mutation_p.H113N|CASC1_uc010sjg.1_Missense_Mutation_p.H225N	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	225										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACACTTCTGTGCCTGTTAATA	0.343												
DDX11	1663	broad.mit.edu	37	12	31244761	31244761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31244761G>A	uc001rjt.1	+	10	1449	c.1198G>A	c.(1198-1200)GAC>AAC	p.D400N	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.D400N|DDX11_uc001rjs.1_Missense_Mutation_p.D400N|DDX11_uc001rju.1_Missense_Mutation_p.D78N|DDX11_uc001rjv.1_Missense_Mutation_p.D400N|DDX11_uc001rjw.1_Missense_Mutation_p.D374N|DDX11_uc001rjx.1_Missense_Mutation_p.D78N|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	400	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAACCTGATCGACACCATCAC	0.667										Multiple Myeloma(12;0.14)		
DENND5B	160518	broad.mit.edu	37	12	31613305	31613305	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31613305G>A	uc001rki.1	-	4	1101	c.915C>T	c.(913-915)CGC>CGT	p.R305R	DENND5B_uc001rkh.1_Silent_p.R340R|DENND5B_uc009zjq.1_Silent_p.R224R|DENND5B_uc001rkj.2_Silent_p.R327R|DENND5B_uc001rkk.1_Silent_p.R227R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CAGTCATCAGGCGTTGATAAT	0.398												
KIF21A	55605	broad.mit.edu	37	12	39716468	39716468	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:39716468A>G	uc001rly.2	-	27	3817	c.3671_splice	c.e27+1	p.I1224_splice	KIF21A_uc001rlv.2_Splice_Site_p.I229_splice|KIF21A_uc001rlw.2_Splice_Site_p.I541_splice|KIF21A_uc001rlx.2_Splice_Site_p.I1211_splice|KIF21A_uc001rlz.2_Splice_Site_p.I1188_splice|KIF21A_uc010skl.1_Splice_Site_p.I1204_splice	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCCAAACTTACATGCTGCCT	0.358												
H1FNT	341567	broad.mit.edu	37	12	48723373	48723373	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:48723373C>A	uc001rrm.2	+	1	611	c.299C>A	c.(298-300)CCC>CAC	p.P100H		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	100					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						CACGAAGCGCCCAGGGGGCAG	0.667												
ADCY6	112	broad.mit.edu	37	12	49176859	49176859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49176859C>T	uc001rsh.3	-	1	1019	c.359G>A	c.(358-360)CGC>CAC	p.R120H	ADCY6_uc001rsj.3_Missense_Mutation_p.R120H|ADCY6_uc001rsi.3_Missense_Mutation_p.R120H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	120	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CACCAGACGGCGCCAGCAGGA	0.662												
MLL2	8085	broad.mit.edu	37	12	49421896	49421896	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49421896G>A	uc001rta.3	-	46	14411	c.14411C>T	c.(14410-14412)GCG>GTG	p.A4804V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4804					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCAGCTCCGCCACTGCCAC	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49427477	49427477	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49427477G>A	uc001rta.3	-	39	11011	c.11011C>T	c.(11011-11013)CCC>TCC	p.P3671S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3671	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTAAGGAAGGGGCCACCAGGC	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KRT7	3855	broad.mit.edu	37	12	52629019	52629019	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:52629019C>T	uc001saa.1	+	2	532	c.405C>T	c.(403-405)AGC>AGT	p.S135S	KRT7_uc009zmf.1_Silent_p.S135S	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	135	Rod.|Linker 1.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCAAGAGCAGCCGCCTCCCAG	0.637												
KRT81	3887	broad.mit.edu	37	12	52685196	52685196	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:52685196G>A	uc001sab.2	-	1	104	c.54C>T	c.(52-54)TGC>TGT	p.C18C	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	18	Head.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCGGCCCGCAGGCCGAGA	0.692												
TENC1	23371	broad.mit.edu	37	12	53451887	53451887	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53451887G>A	uc001sbp.2	+	14	1230	c.1095_splice	c.e14+1	p.M365_splice	TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CGATGTCATGGTGAGGGGGGT	0.577												
SPRYD3	84926	broad.mit.edu	37	12	53468510	53468510	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53468510G>A	uc001sbt.1	-	5	451	c.430C>T	c.(430-432)CGG>TGG	p.R144W	SPRYD3_uc010snw.1_Intron	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	144	B30.2/SPRY.									central_nervous_system(1)	1						CAGCCAATCCGGTCCCCGGAG	0.567												
SPRYD3	84926	broad.mit.edu	37	12	53470944	53470944	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53470944T>C	uc001sbt.1	-	2	146	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	SPRYD3_uc010snw.1_Translation_Start_Site	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	42	B30.2/SPRY.									central_nervous_system(1)	1						CCTCTCCTGATATCGGAAAGC	0.468												
GLS2	27165	broad.mit.edu	37	12	56872956	56872956	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:56872956G>A	uc001slj.2	-	4	693	c.414C>T	c.(412-414)AGC>AGT	p.S138S	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	138					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAATGTTGCTGCTCACACACC	0.428												
LRP1	4035	broad.mit.edu	37	12	57554728	57554728	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57554728C>T	uc001snd.2	+	13	2498	c.2032C>T	c.(2032-2034)CGG>TGG	p.R678W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	678	LDL-receptor class B 6.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCGTGGGCGGCTGGAGAG	0.627												
LRP1	4035	broad.mit.edu	37	12	57595682	57595682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57595682G>T	uc001snd.2	+	67	11054	c.10588G>T	c.(10588-10590)GAG>TAG	p.E3530*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3530	Extracellular (Potential).|LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCAAGGAAGAGTGTGGTGA	0.647												
IL22	50616	broad.mit.edu	37	12	68647066	68647066	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:68647066G>A	uc001sty.1	-	1	216	c.163C>T	c.(163-165)CGC>TGC	p.R55C	IL22_uc010stb.1_Missense_Mutation_p.R55C	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	interleukin 22 precursor	55					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding				0		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGAAGGTGCGGTTGGTGATA	0.498												
PTPRB	5787	broad.mit.edu	37	12	70946688	70946688	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:70946688G>A	uc001swb.3	-	19	4632	c.4602C>T	c.(4600-4602)GCC>GCT	p.A1534A	PTPRB_uc010sto.1_Silent_p.A1444A|PTPRB_uc010stp.1_Silent_p.A1444A|PTPRB_uc001swc.3_Silent_p.A1752A|PTPRB_uc001swa.3_Silent_p.A1664A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1534	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAGGATTTTCGGCACATTTGC	0.468												
MGAT4C	25834	broad.mit.edu	37	12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:86373300G>A	uc001tai.3	-	8	2454	c.1204C>T	c.(1204-1206)CAA>TAA	p.Q402*	MGAT4C_uc001tal.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc001taj.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc001tak.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc010sum.1_Nonsense_Mutation_p.Q426*|MGAT4C_uc001tah.3_Nonsense_Mutation_p.Q402*	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	402	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						ATATCATTTTGCCGATCTTCT	0.343												
CKAP4	10970	broad.mit.edu	37	12	106633826	106633826	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:106633826C>T	uc001tlk.2	-	2	869	c.785G>A	c.(784-786)AGC>AAC	p.S262N		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	262	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						CTCCTTCTGGCTCCTCTTCTG	0.517												
SART3	9733	broad.mit.edu	37	12	108931976	108931976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:108931976G>A	uc001tmz.1	-	8	1301	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Nonsense_Mutation_p.R356*|SART3_uc010swy.1_Nonsense_Mutation_p.R242*|SART3_uc010swz.1_Nonsense_Mutation_p.R356*|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	356	HAT 5.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						TTCAGTTGTCGATCCTATGAT	0.408									Porokeratosis			
DAO	1610	broad.mit.edu	37	12	109278816	109278816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:109278816G>A	uc001tnr.3	+	2	187	c.34G>A	c.(34-36)GGG>AGG	p.G12R	DAO_uc001tnq.3_Missense_Mutation_p.G12R|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	12	FAD.				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						AGGAGTCATCGGGCTGTCCAC	0.577												
TRPV4	59341	broad.mit.edu	37	12	110236479	110236479	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110236479G>A	uc001tpj.1	-	5	1187	c.1092C>T	c.(1090-1092)GCC>GCT	p.A364A	TRPV4_uc001tpg.1_Silent_p.A330A|TRPV4_uc001tph.1_Silent_p.A317A|TRPV4_uc001tpi.1_Silent_p.A317A|TRPV4_uc001tpk.1_Silent_p.A364A|TRPV4_uc001tpl.1_Silent_p.A364A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	364	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGTTGAGCACGGCCTCCAGGT	0.597												
GIT2	9815	broad.mit.edu	37	12	110383069	110383069	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110383069C>T	uc001tps.2	-	16	1892	c.1727G>A	c.(1726-1728)CGA>CAA	p.R576Q	TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Intron|GIT2_uc001tpq.2_Intron|GIT2_uc001tpv.2_Intron|GIT2_uc001tpu.2_Intron|GIT2_uc001tpt.2_Intron|GIT2_uc010sxu.1_Intron	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	576					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						CTTAACCCTTCGGGCGCTTTC	0.582												
ANAPC7	51434	broad.mit.edu	37	12	110819722	110819722	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110819722G>A	uc001tqo.2	-	8	1070	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	ANAPC7_uc001tqp.3_Missense_Mutation_p.R357W	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	357					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						TAGAGGGCCCGGGAGTAGCGT	0.433												
MYL2	4633	broad.mit.edu	37	12	111352053	111352053	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111352053T>C	uc001try.3	-	4	282	c.211A>G	c.(211-213)AAG>GAG	p.K71E	MYL2_uc001trx.3_Missense_Mutation_p.K52E	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	71					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GGAGCCTCCTTGATCATTTCA	0.388												
CUX2	23316	broad.mit.edu	37	12	111733145	111733145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111733145A>G	uc001tsa.1	+	7	722	c.569A>G	c.(568-570)CAA>CGA	p.Q190R	CUX2_uc001tsb.1_Missense_Mutation_p.Q245R	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						AGGGGCCTTCAAGAAGTACAG	0.602												
SLC24A6	80024	broad.mit.edu	37	12	113745598	113745598	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:113745598C>T	uc001tvc.2	-	13	1519	c.1309G>A	c.(1309-1311)GCC>ACC	p.A437T	SLC24A6_uc001tuz.2_Missense_Mutation_p.A142T|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Missense_Mutation_p.A175T	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	437	Helical; Name=9; (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						ACCTCTGTGGCGGCCGCGTTG	0.622												
MED13L	23389	broad.mit.edu	37	12	116399155	116399155	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:116399155C>T	uc001tvw.2	-	31	6604	c.6549G>A	c.(6547-6549)CCG>CCA	p.P2183P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2183					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGTGGCCGGATTGCACG	0.517												
KSR2	283455	broad.mit.edu	37	12	117914383	117914383	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:117914383C>T	uc001two.2	-	17	2436	c.2381G>A	c.(2380-2382)CGC>CAC	p.R794H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	823	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R855H(1)		lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCTGGATGCGCAGTTTGTC	0.597												
KSR2	283455	broad.mit.edu	37	12	118199074	118199074	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:118199074G>A	uc001two.2	-	4	696	c.641C>T	c.(640-642)TCG>TTG	p.S214L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	243	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACGGTGGCCCGACTCCAGTGG	0.746												
ORAI1	84876	broad.mit.edu	37	12	122079120	122079120	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122079120G>A	uc010szz.1	+	3	670	c.477G>A	c.(475-477)TCG>TCA	p.S159S		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	159	Cytoplasmic (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ATCTCAACTCGGTCAAGGAGT	0.617												
MORN3	283385	broad.mit.edu	37	12	122092338	122092338	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122092338C>T	uc001uax.2	-	3	476	c.305G>A	c.(304-306)GGT>GAT	p.G102D	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	102	MORN 3.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GATCCCATAACCCTGAAAGTA	0.592												
SBNO1	55206	broad.mit.edu	37	12	123829936	123829936	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:123829936C>T	uc010tap.1	-	3	419	c.419G>A	c.(418-420)CGA>CAA	p.R140Q	SBNO1_uc010tao.1_Missense_Mutation_p.R139Q|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R140Q|SBNO1_uc001ueu.2_Missense_Mutation_p.R139Q|SBNO1_uc001uev.2_Missense_Mutation_p.R138Q|SBNO1_uc009zxy.1_Missense_Mutation_p.R105Q	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	140							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATGGCATTTCGTACTGTTGG	0.418												
GTF2H3	2967	broad.mit.edu	37	12	124139506	124139506	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:124139506T>C	uc001ufo.1	+	8	548	c.522T>C	c.(520-522)TAT>TAC	p.Y174Y	GTF2H3_uc010tau.1_Silent_p.Y133Y	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3,	174					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CGTTGCAGTATATGAACTTCA	0.418								NER				
TMEM132B	114795	broad.mit.edu	37	12	125834469	125834469	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:125834469G>A	uc001uhe.1	+	2	532	c.524G>A	c.(523-525)CGG>CAG	p.R175Q		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCAGCTGTCGGCTGCAAGGG	0.617												
GLT1D1	144423	broad.mit.edu	37	12	129442187	129442187	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:129442187A>C	uc010tbh.1	+	12	902	c.893A>C	c.(892-894)CAG>CCG	p.Q298P	GLT1D1_uc001uhx.1_Missense_Mutation_p.Q213P|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	293					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TCCAATCCTCAGGTAAAGAAA	0.443												
FZD10	11211	broad.mit.edu	37	12	130647800	130647800	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:130647800G>A	uc001uii.2	+	1	769	c.313G>A	c.(313-315)GCC>ACC	p.A105T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	105	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCCCATCCCCGCCTGCCGGGT	0.662												
EP400	57634	broad.mit.edu	37	12	132475230	132475230	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:132475230C>T	uc001ujn.2	+	8	2635	c.2600C>T	c.(2599-2601)GCC>GTC	p.A867V	EP400_uc001ujl.2_Missense_Mutation_p.A866V|EP400_uc001ujm.2_Missense_Mutation_p.A867V|EP400_uc001ujj.1_Missense_Mutation_p.A830V|EP400_uc001ujk.2_Missense_Mutation_p.A903V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	903					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAGAAGGCCTTAAATTTA	0.378												
GALNT9	50614	broad.mit.edu	37	12	132688221	132688221	+	Silent	SNP	G	G	A	rs112458926		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:132688221G>A	uc001ukc.3	-	7	1208	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	GALNT9_uc009zyr.2_Silent_p.G138G|GALNT9_uc001ukb.2_Silent_p.G221G|GALNT9_uc001uka.2_5'UTR	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	364	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCATGCTGCCGCCACACTGCC	0.687												
CHFR	55743	broad.mit.edu	37	12	133428216	133428216	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:133428216C>T	uc001ulf.2	-	12	1600	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A494T|CHFR_uc010tbs.1_Missense_Mutation_p.A505T|CHFR_uc001uld.2_Missense_Mutation_p.A465T|CHFR_uc010tbt.1_Missense_Mutation_p.A414T	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	506					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGCTGAGGGGCGACACGCGGG	0.652												
CRYL1	51084	broad.mit.edu	37	13	21013765	21013765	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:21013765C>A	uc001une.2	-	4	484	c.405G>T	c.(403-405)TTG>TTT	p.L135F	CRYL1_uc001unf.2_Missense_Mutation_p.L113F|CRYL1_uc001ung.2_Missense_Mutation_p.L113F|CRYL1_uc010tcp.1_Missense_Mutation_p.L9F	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	135					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TCACATGGACCAAGCCAGCAA	0.373												
CENPJ	55835	broad.mit.edu	37	13	25457502	25457502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:25457502C>T	uc001upt.3	-	17	4083	c.3830G>A	c.(3829-3831)GGC>GAC	p.G1277D	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1277					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTTGTTGCCATCACTGta	0.308												
POLR1D	51082	broad.mit.edu	37	13	28240013	28240013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:28240013C>T	uc001urp.2	+	3	410	c.292C>T	c.(292-294)CGA>TGA	p.R98*	POLR1D_uc010aam.2_Nonsense_Mutation_p.R70*|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTTCCGCGCTCGAGGTTCCGC	0.582												
FRY	10129	broad.mit.edu	37	13	32808878	32808878	+	Nonsense_Mutation	SNP	G	G	T	rs139625807	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:32808878G>T	uc001utx.2	+	42	6191	c.5695G>T	c.(5695-5697)GAA>TAA	p.E1899*	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGTGATAGGAGAACATGGAGA	0.483												
FRY	10129	broad.mit.edu	37	13	32868598	32868598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:32868598G>A	uc001utx.2	+	60	9170	c.8674G>A	c.(8674-8676)GCG>ACG	p.A2892T	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.A423T|FRY_uc010tdx.1_Missense_Mutation_p.A262T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCAGACGGCGCGTGGTCCGA	0.532												
NBEA	26960	broad.mit.edu	37	13	35644128	35644128	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:35644128T>C	uc001uvb.2	+	10	1529	c.1323T>C	c.(1321-1323)AGT>AGC	p.S441S		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	441						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACTTGCAAGTAGCATTGCCT	0.373												
DCLK1	9201	broad.mit.edu	37	13	36445472	36445472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:36445472G>A	uc001uvf.2	-	5	1062	c.829C>T	c.(829-831)CGA>TGA	p.R277*	uc001uvi.1_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	277					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTTACCACTCGACATTCTGGG	0.473												
POSTN	10631	broad.mit.edu	37	13	38166277	38166277	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:38166277A>G	uc001uwo.3	-	3	361	c.243T>C	c.(241-243)CCT>CCC	p.P81P	POSTN_uc001uwp.3_Silent_p.P81P|POSTN_uc001uwr.2_Silent_p.P81P|POSTN_uc001uwq.2_Silent_p.P81P|POSTN_uc010teu.1_Silent_p.P81P|POSTN_uc010tev.1_Silent_p.P81P|POSTN_uc010tew.1_Silent_p.P81P|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	81	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCATATAACCAGGGCAACATT	0.303												
NHLRC3	387921	broad.mit.edu	37	13	39612627	39612627	+	Translation_Start_Site	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:39612627A>T	uc001uxc.2	+	1	173	c.-149A>T	c.(-151--147)AAAGC>AATGC		C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Translation_Start_Site|NHLRC3_uc001uxb.1_Translation_Start_Site|NHLRC3_uc001uxd.2_Translation_Start_Site|NHLRC3_uc001uxe.2_Intron	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a							extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TCGTACTCAAAGCTCGTGCAT	0.597												
AKAP11	11215	broad.mit.edu	37	13	42877077	42877077	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:42877077C>T	uc001uys.1	+	8	4370	c.4195C>T	c.(4195-4197)CCA>TCA	p.P1399S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1399					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTCCCTGTGCCAAGTTCACA	0.403												
TBC1D4	9882	broad.mit.edu	37	13	75936260	75936260	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:75936260C>T	uc001vjl.1	-	2	1329	c.982G>A	c.(982-984)GAG>AAG	p.E328K	TBC1D4_uc010aer.2_Missense_Mutation_p.E328K|TBC1D4_uc010aes.2_Missense_Mutation_p.E328K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	328	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGGCTGCCCTCGTGAACTCTC	0.602												
ZIC5	85416	broad.mit.edu	37	13	100617886	100617886	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:100617886C>T	uc001vom.1	-	2	1986	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	579					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGAAGGTGGCGGGGACTTGC	0.582												
ZIC2	7546	broad.mit.edu	37	13	100635354	100635354	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:100635354C>T	uc001von.2	+	1	1036	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	346	C2H2-type 3.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCTTCGCGCGCTCCGAGAA	0.617												
ITGBL1	9358	broad.mit.edu	37	13	102220101	102220102	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:102220101_102220102GG>TT	uc001vpb.2	+	3	587_588	c.368_369GG>TT	c.(367-369)GGG>GTT	p.G123V	ITGBL1_uc010agb.2_Intron|ITGBL1_uc001vpc.3_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	123	II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGATGGTATGGGGATGCTTGCC	0.431												
FGF14	2259	broad.mit.edu	37	13	102568809	102568809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:102568809G>A	uc001vpe.2	-	1	187	c.187C>T	c.(187-189)CGC>TGC	p.R63C	FGF14_uc001vpf.2_Intron	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	63					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGACCTTGGCGCCGCAACCTG	0.652												
C13orf27	93081	broad.mit.edu	37	13	103418901	103418901	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:103418901C>T	uc001vpo.2	-	6	712	c.534G>A	c.(532-534)ATG>ATA	p.M178I	C13orf27_uc001vpn.2_Missense_Mutation_p.M137I|C13orf27_uc001vpp.2_Missense_Mutation_p.M137I	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	178											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGGAGCTTGCATTTTCTGTG	0.383												
COL4A2	1284	broad.mit.edu	37	13	111118411	111118411	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:111118411T>C	uc001vqx.2	+	26	2327	c.2038_splice	c.e26+2	p.G680_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCAGCCAGGTACTCTGGGAA	0.473												
GRK1	6011	broad.mit.edu	37	13	114322333	114322333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:114322333C>T	uc010tkf.1	+	1	740	c.632C>T	c.(631-633)GCG>GTG	p.A211V		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	211	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CAGATGAAGGCGACCGGCAAG	0.632												
RNASE10	338879	broad.mit.edu	37	14	20979078	20979078	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:20979078G>A	uc010tlj.1	+	1	448	c.448G>A	c.(448-450)GCT>ACT	p.A150T	RNASE10_uc001vxp.2_Missense_Mutation_p.A178T	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	150						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CACAGTCAAAGCTGTCTGTAA	0.468												
RNASE6	6039	broad.mit.edu	37	14	21249933	21249933	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:21249933T>C	uc001vye.3	+	2	368	c.75T>C	c.(73-75)CCT>CCC	p.P25P		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	25					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		ATGCTTGGCCTAAGCGTCTCA	0.463												
OR5AU1	390445	broad.mit.edu	37	14	21623789	21623789	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:21623789G>T	uc010tlp.1	-	1	396	c.396C>A	c.(394-396)ACC>ACA	p.T132T		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	132	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTTCACCAGGGTCTGGGGCA	0.512												
MMP14	4323	broad.mit.edu	37	14	23312937	23312937	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23312937C>T	uc001whc.2	+	6	1103	c.869C>T	c.(868-870)CCC>CTC	p.P290L		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	290	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCAGGGTTCCCCACCAAGATG	0.572												
LRP10	26020	broad.mit.edu	37	14	23344969	23344969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23344969G>A	uc001whd.2	+	5	1365	c.812G>A	c.(811-813)GGC>GAC	p.G271D	LRP10_uc001whe.2_Missense_Mutation_p.G147D	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	271	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTCAGCAATGGCAAGGCTGTC	0.577												
MYH7	4625	broad.mit.edu	37	14	23883076	23883076	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23883076G>A	uc001wjx.2	-	39	5788	c.5682C>T	c.(5680-5682)TCC>TCT	p.S1894S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1894	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCGGAACTTGGACAGGTTGG	0.637												
MYH7	4625	broad.mit.edu	37	14	23888767	23888767	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23888767G>A	uc001wjx.2	-	28	3884	c.3778C>T	c.(3778-3780)CGG>TGG	p.R1260W	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1260	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTTGCTCCGGTGCTCATTC	0.577												
NGDN	25983	broad.mit.edu	37	14	23945575	23945575	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23945575G>A	uc001wjy.2	+	8	699	c.672G>A	c.(670-672)CGG>CGA	p.R224R	NGDN_uc001wjz.2_Silent_p.R224R|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	224					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGATGCTCGGCATCCCCATG	0.512												
DHRS4	10901	broad.mit.edu	37	14	24424347	24424347	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24424347G>T	uc001wla.2	+	2	265	c.232G>T	c.(232-234)GGG>TGG	p.G78W	C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Missense_Mutation_p.G78W|DHRS4_uc001wlb.2_Missense_Mutation_p.G78W|DHRS4_uc010akz.2_Missense_Mutation_p.G78W|DHRS4_uc001wlc.3_Missense_Mutation_p.G78W|DHRS4L2_uc001wld.3_Missense_Mutation_p.G78W|DHRS4L2_uc001wle.3_Missense_Mutation_p.G78W	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	78						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CACGCTGCAGGGGGAGGGGCT	0.701												
RABGGTA	5875	broad.mit.edu	37	14	24738901	24738901	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24738901C>T	uc001wof.2	-	5	850	c.428_splice	c.e5-1	p.F143_splice	RABGGTA_uc001woe.2_Splice_Site|RABGGTA_uc001wog.2_Splice_Site_p.F143_splice|RABGGTA_uc001woh.2_Splice_Site|RABGGTA_uc001woi.2_Splice_Site	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		CAGCAGTGAACTGGAGGGGAG	0.587												
CMA1	1215	broad.mit.edu	37	14	24976674	24976674	+	Missense_Mutation	SNP	G	G	A	rs138432864	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24976674G>A	uc001wpp.1	-	2	127	c.97C>T	c.(97-99)CGC>TGC	p.R33C	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	chymase 1, mast cell preproprotein	33	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.0271)		ATGTAGGGGCGGGAATGTGGC	0.507												
GZMH	2999	broad.mit.edu	37	14	25077608	25077608	+	Silent	SNP	G	G	A	rs149691716	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:25077608G>A	uc001wpr.1	-	2	111	c.66C>T	c.(64-66)ATC>ATT	p.I22I	GZMH_uc010aly.1_Silent_p.I22I|GZMH_uc010alz.1_Silent_p.I22I	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	22	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CATGGCCCCCGATGATCTCCT	0.537												
PRKD1	5587	broad.mit.edu	37	14	30068264	30068264	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:30068264A>C	uc001wqh.2	-	15	2316	c.2135T>G	c.(2134-2136)GTG>GGG	p.V712G		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	712	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTAGCAACACATTTTCTGG	0.418												
G2E3	55632	broad.mit.edu	37	14	31067763	31067763	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:31067763G>T	uc001wqk.2	+	8	864	c.710G>T	c.(709-711)AGA>ATA	p.R237I	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Missense_Mutation_p.R191I	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	237	PHD-type 3.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GATGTTCGAAGATGTCGTTGC	0.398												
AKAP6	9472	broad.mit.edu	37	14	33293352	33293352	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:33293352G>A	uc001wrq.2	+	13	6503	c.6333G>A	c.(6331-6333)TCG>TCA	p.S2111S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTTTTATTCGTACTTATCTC	0.463												
LRFN5	145581	broad.mit.edu	37	14	42356779	42356779	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:42356779A>G	uc001wvm.2	+	3	2149	c.951A>G	c.(949-951)GCA>GCG	p.A317A	LRFN5_uc010ana.2_Silent_p.A317A	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	317	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGAGCCTGCAATTCACTGGA	0.468										HNSCC(30;0.082)		
NID2	22795	broad.mit.edu	37	14	52507367	52507367	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:52507367A>G	uc001wzo.2	-	8	2260	c.2026_splice	c.e8+1	p.T676_splice	NID2_uc010tqs.1_Splice_Site_p.T676_splice|NID2_uc010tqt.1_Splice_Site_p.T676_splice|NID2_uc001wzp.2_Splice_Site_p.T676_splice	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor							basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					gGTTATACATACTGGAGTCGG	0.264												
KIAA0831	22863	broad.mit.edu	37	14	55836376	55836376	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:55836376C>T	uc001xbx.1	-	10	1476	c.1440G>A	c.(1438-1440)TCG>TCA	p.S480S	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Silent_p.S367S	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	480					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						AGGAGGTCACCGAGGCTGCTG	0.537												
SIX4	51804	broad.mit.edu	37	14	61190676	61190676	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:61190676C>A	uc001xfc.2	-	1	117	c.117G>T	c.(115-117)GCG>GCT	p.A39A	SIX4_uc010app.1_Silent_p.A31A	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	39	Ala-rich.					nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCCCTACCGCCGCGCCCCCCG	0.687												
SYT16	83851	broad.mit.edu	37	14	62551094	62551094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:62551094C>T	uc001xfu.1	+	5	1812	c.1615C>T	c.(1615-1617)CGA>TGA	p.R539*	SYT16_uc010tse.1_Nonsense_Mutation_p.R97*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	539	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGCTGTTAACCGAGCACCTGG	0.502												
SYNE2	23224	broad.mit.edu	37	14	64430701	64430701	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:64430701T>C	uc001xgm.2	+	10	1203	c.973T>C	c.(973-975)TAC>CAC	p.Y325H	SYNE2_uc001xgl.2_Missense_Mutation_p.Y325H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	325	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATACCTACTTTAAAAA	0.328												
PAPLN	89932	broad.mit.edu	37	14	73720653	73720653	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:73720653C>T	uc010ttx.1	+	11	1449	c.1286C>T	c.(1285-1287)CCG>CTG	p.P429L	PAPLN_uc001xnw.3_Missense_Mutation_p.P402L|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P429L	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	429	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTGGAGCCCGGAGCCCTGG	0.667												
FAM161B	145483	broad.mit.edu	37	14	74411229	74411229	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:74411229A>G	uc001xpd.1	-	3	840	c.734T>C	c.(733-735)ATC>ACC	p.I245T		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						CCTCTTCTGGATCCCTGCCTG	0.582												
YLPM1	56252	broad.mit.edu	37	14	75264709	75264709	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:75264709C>T	uc001xqj.3	+	5	2833	c.2709C>T	c.(2707-2709)AGC>AGT	p.S903S	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAATCTAAGCGACTCTCAAC	0.443												
ADCK1	57143	broad.mit.edu	37	14	78397931	78397931	+	Missense_Mutation	SNP	G	G	A	rs112630340		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:78397931G>A	uc001xui.2	+	10	1376	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	ADCK1_uc001xuj.2_Missense_Mutation_p.R358H|ADCK1_uc001xul.2_Missense_Mutation_p.R133H	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	433	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CACGTGCCGCGCCAGATGCTG	0.592												
FLRT2	23768	broad.mit.edu	37	14	86088481	86088481	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:86088481G>A	uc001xvr.2	+	2	1390	c.623G>A	c.(622-624)CGT>CAT	p.R208H	FLRT2_uc010atd.2_Missense_Mutation_p.R208H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	208	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCTTGGAGCGTCTTATTGTG	0.502												
FLRT2	23768	broad.mit.edu	37	14	86089274	86089274	+	Silent	SNP	C	C	T	rs146568257	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:86089274C>T	uc001xvr.2	+	2	2183	c.1416C>T	c.(1414-1416)AGC>AGT	p.S472S	FLRT2_uc010atd.2_Silent_p.S472S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517												
KCNK10	54207	broad.mit.edu	37	14	88652360	88652360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:88652360C>T	uc001xwo.2	-	7	1593	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	KCNK10_uc001xwm.2_Missense_Mutation_p.R384Q|KCNK10_uc001xwn.2_Missense_Mutation_p.R384Q	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	379	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CAGGCCCAGCCGCCGGCGCTC	0.667												
KCNK10	54207	broad.mit.edu	37	14	88658653	88658653	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:88658653C>G	uc001xwo.2	-	5	1225	c.768G>C	c.(766-768)AAG>AAC	p.K256N	KCNK10_uc001xwm.2_Missense_Mutation_p.K261N|KCNK10_uc001xwn.2_Missense_Mutation_p.K261N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	256					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CCTCGATGTACTTAAAGATGA	0.522												
BTBD7	55727	broad.mit.edu	37	14	93760390	93760390	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:93760390T>C	uc001ybo.2	-	3	1302	c.976A>G	c.(976-978)ACA>GCA	p.T326A	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.T241A|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.T241A|BTBD7_uc001ybr.2_Missense_Mutation_p.T326A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	326	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATATCACTGTTGCATATTTT	0.443												
AMN	81693	broad.mit.edu	37	14	103390133	103390133	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:103390133C>T	uc001ymg.3	+	2	162	c.129C>T	c.(127-129)TGC>TGT	p.C43C	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	43	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716												
KIAA0284	283638	broad.mit.edu	37	14	105353025	105353025	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:105353025G>T	uc010axb.2	+	12	2673	c.2449G>T	c.(2449-2451)GGG>TGG	p.G817W	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.G747W|KIAA0284_uc001yps.2_Missense_Mutation_p.G723W|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	817						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGCGGCTCCAGGGGATGGGGA	0.642												
JAG2	3714	broad.mit.edu	37	14	105609917	105609917	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:105609917G>A	uc001yqg.2	-	25	3547	c.3143C>T	c.(3142-3144)GCC>GTC	p.A1048V	JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.A452V|JAG2_uc001yqh.2_Missense_Mutation_p.A1010V	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1048	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGCCACGATGGCGTGGGCCGC	0.662												
MKRN3	7681	broad.mit.edu	37	15	23811710	23811710	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:23811710C>A	uc001ywh.3	+	1	1257	c.781C>A	c.(781-783)CTC>ATC	p.L261I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.L261I	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	261	C3H1-type 2.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGTATGTACCTCCATGGAGA	0.542												
C15orf2	23742	broad.mit.edu	37	15	24921241	24921241	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:24921241G>T	uc001ywo.2	+	1	701	c.227G>T	c.(226-228)CGG>CTG	p.R76L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	76					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCTCCCTCGGGCTGCGGCC	0.706												
OCA2	4948	broad.mit.edu	37	15	28231740	28231740	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28231740G>T	uc001zbh.3	-	12	1342	c.1232C>A	c.(1231-1233)GCT>GAT	p.A411D	OCA2_uc010ayv.2_Missense_Mutation_p.A387D	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	411	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TACCTTTACAGCACAATAATC	0.289									Oculocutaneous_Albinism			
HERC2	8924	broad.mit.edu	37	15	28366498	28366498	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28366498G>A	uc001zbj.2	-	86	13372	c.13266C>T	c.(13264-13266)CGC>CGT	p.R4422R		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4422					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTACCTGGATGCGGTTCAGCT	0.537												
HERC2	8924	broad.mit.edu	37	15	28377925	28377925	+	Silent	SNP	G	G	A	rs140970725	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28377925G>A	uc001zbj.2	-	80	12388	c.12282C>T	c.(12280-12282)GTC>GTT	p.V4094V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4094	RCC1 15.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCAACATCGACCACTTCAA	0.547												
HERC2	8924	broad.mit.edu	37	15	28419605	28419605	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28419605C>T	uc001zbj.2	-	65	10099	c.9993G>A	c.(9991-9993)ACG>ACA	p.T3331T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3331					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGACAGAGGGCGTGGCCACAT	0.537												
HERC2	8924	broad.mit.edu	37	15	28501349	28501349	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28501349C>T	uc001zbj.2	-	18	2738	c.2632G>A	c.(2632-2634)GTG>ATG	p.V878M	HERC2_uc001zbl.1_Missense_Mutation_p.V573M	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	878					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGCTCAGCACGCCCGCACTG	0.667												
TJP1	7082	broad.mit.edu	37	15	29997900	29997900	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:29997900C>T	uc001zcr.2	-	26	5375	c.4900G>A	c.(4900-4902)GCC>ACC	p.A1634T	TJP1_uc010azl.2_Missense_Mutation_p.A1622T|TJP1_uc001zcq.2_Missense_Mutation_p.A1558T|TJP1_uc001zcs.2_Missense_Mutation_p.A1554T	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1634	ZU5.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CGGGCTGTGGCCACCACAGTA	0.463												
TRPM1	4308	broad.mit.edu	37	15	31355443	31355443	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:31355443G>A	uc001zfm.2	-	7	905	c.777C>T	c.(775-777)AAC>AAT	p.N259N	TRPM1_uc010azy.2_Silent_p.N172N|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	259	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGACACCACGTTAGGGCCCC	0.612												
BAHD1	22893	broad.mit.edu	37	15	40754413	40754413	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:40754413C>T	uc001zlu.2	+	3	1806	c.1735C>T	c.(1735-1737)CGC>TGC	p.R579C	BAHD1_uc001zlt.2_Missense_Mutation_p.R578C|BAHD1_uc010bbp.1_Missense_Mutation_p.R578C|BAHD1_uc001zlv.2_Missense_Mutation_p.R579C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	579	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAGCGCCCACGCCCTCGCCG	0.642												
CHAC1	79094	broad.mit.edu	37	15	41247845	41247845	+	Missense_Mutation	SNP	G	G	A	rs144026007		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41247845G>A	uc001znh.2	+	3	688	c.668G>A	c.(667-669)CGT>CAT	p.R223H	CHAC1_uc010uct.1_Missense_Mutation_p.R178H	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	223					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TACTTGCTGCGTCTGGCAGAC	0.642												
INO80	54617	broad.mit.edu	37	15	41276449	41276449	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41276449G>A	uc001zni.2	-	33	4236	c.4023C>T	c.(4021-4023)GAC>GAT	p.D1341D	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1341	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						AGTCATCTCCGTCAGCAGAGA	0.498												
TYRO3	7301	broad.mit.edu	37	15	41864674	41864674	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41864674T>G	uc001zof.1	+	15	2011	c.1787T>G	c.(1786-1788)CTC>CGC	p.L596R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	596	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAAGGCCGTCTCCCCATCCCC	0.592												
TGM5	9333	broad.mit.edu	37	15	43531380	43531380	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:43531380T>C	uc001zrd.1	-	8	1094	c.1086A>G	c.(1084-1086)ACA>ACG	p.T362T	TGM5_uc001zrc.1_Silent_p.T19T|TGM5_uc001zre.1_Silent_p.T280T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	362					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCTCCTGAGGTGTGGCGTCCA	0.612												
FRMD5	84978	broad.mit.edu	37	15	44198148	44198148	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:44198148C>T	uc001ztl.2	-	6	606	c.429G>A	c.(427-429)GCG>GCA	p.A143A	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.A54A|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	143	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCCAATCTCCGCTTTCAAAA	0.418												
SPG11	80208	broad.mit.edu	37	15	44951449	44951449	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:44951449T>C	uc001ztx.2	-	3	526	c.495A>G	c.(493-495)TTA>TTG	p.L165L	SPG11_uc010ueh.1_Silent_p.L165L|SPG11_uc010uei.1_Silent_p.L165L|SPG11_uc001zua.1_Silent_p.L165L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	165	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGATGAACAGTAATGATGTGT	0.343												
USP50	373509	broad.mit.edu	37	15	50836810	50836810	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:50836810G>A	uc001zyq.3	-	2	402	c.222C>T	c.(220-222)ACC>ACT	p.T74T		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	74					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TATACTTCCCGGTGAGAAAGT	0.537												
CYP19A1	1588	broad.mit.edu	37	15	51514698	51514698	+	Missense_Mutation	SNP	C	C	T	rs76174961		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:51514698C>T	uc001zyz.3	-	6	727	c.476G>A	c.(475-477)CGT>CAT	p.R159H	CYP19A1_uc001zza.3_Missense_Mutation_p.R159H|CYP19A1_uc001zzb.2_Missense_Mutation_p.R159H|CYP19A1_uc001zzd.2_Missense_Mutation_p.R159H|CYP19A1_uc010bey.1_Missense_Mutation_p.R159H	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	159					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGTGACCATACGAACAAGGCC	0.512												
GLDN	342035	broad.mit.edu	37	15	51689791	51689791	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:51689791C>T	uc002aba.2	+	6	982	c.813C>T	c.(811-813)TGC>TGT	p.C271C	GLDN_uc002abb.2_Silent_p.C147C	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	271	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACGGCCAGTGCCCAGGTCACC	0.607												
MYO5A	4644	broad.mit.edu	37	15	52668596	52668596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:52668596G>A	uc002aby.2	-	19	2612	c.2368C>T	c.(2368-2370)CGG>TGG	p.R790W	MYO5A_uc002abx.3_Missense_Mutation_p.R790W|MYO5A_uc010uge.1_Missense_Mutation_p.R659W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	790	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCTGCCTTCCGCATGCGTAGG	0.542												
ANXA2	302	broad.mit.edu	37	15	60641357	60641357	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:60641357C>T	uc002agn.2	-	13	1037	c.877G>A	c.(877-879)GTC>ATC	p.V293I	ANXA2_uc002agk.2_Missense_Mutation_p.V293I|ANXA2_uc002agl.2_Missense_Mutation_p.V293I|ANXA2_uc002agm.2_Missense_Mutation_p.V311I|ANXA2_uc010uhd.1_RNA	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	293	Annexin 4.			V -> A (in Ref. 6; AAH23990).	angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTGCGGGAGACCATGATTCTG	0.438												
NARG2	79664	broad.mit.edu	37	15	60741880	60741880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:60741880G>A	uc002agp.2	-	10	1521	c.1286C>T	c.(1285-1287)ACA>ATA	p.T429I	NARG2_uc002ago.2_Missense_Mutation_p.T292I|NARG2_uc002agq.3_Missense_Mutation_p.T97I	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	429						nucleus				ovary(1)|lung(1)	2						AGGAGCATCTGTCATGTTAGG	0.423												
IGDCC4	57722	broad.mit.edu	37	15	65702608	65702608	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:65702608G>A	uc002aou.1	-	3	681	c.471C>T	c.(469-471)AAC>AAT	p.N157N		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	157	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GAGCTGTCCCGTTCTCCTCCA	0.577												
SLC24A1	9187	broad.mit.edu	37	15	65916520	65916520	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:65916520C>T	uc010ujf.1	+	2	389	c.102C>T	c.(100-102)ATC>ATT	p.I34I	SLC24A1_uc010ujd.1_Silent_p.I34I|SLC24A1_uc010uje.1_Silent_p.I34I|SLC24A1_uc010ujg.1_Silent_p.I34I|SLC24A1_uc010ujh.1_Silent_p.I34I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	34	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TGTTGATCATCGGTTCTACTT	0.532												
DIS3L	115752	broad.mit.edu	37	15	66607510	66607510	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:66607510C>T	uc010ujm.1	+	7	966	c.951C>T	c.(949-951)GAC>GAT	p.D317D	DIS3L_uc010ujl.1_Missense_Mutation_p.T4M|DIS3L_uc002app.2_Silent_p.D234D|DIS3L_uc002apq.2_Silent_p.D317D|DIS3L_uc010bho.2_Silent_p.D183D	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	317					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ATGACTGTGACGACAAGGCTT	0.498												
DIS3L	115752	broad.mit.edu	37	15	66618407	66618407	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:66618407G>T	uc010ujm.1	+	12	1921	c.1906G>T	c.(1906-1908)GCT>TCT	p.A636S	DIS3L_uc010ujl.1_Missense_Mutation_p.A266S|DIS3L_uc002app.2_Missense_Mutation_p.A553S|DIS3L_uc002apq.2_Missense_Mutation_p.A636S|DIS3L_uc010bho.2_Missense_Mutation_p.A502S	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	636					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GACCGACATAGCTCGCCATGT	0.488												
ITGA11	22801	broad.mit.edu	37	15	68599992	68599992	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:68599992G>A	uc002ari.2	-	27	3304	c.3217C>T	c.(3217-3219)CGG>TGG	p.R1073W	ITGA11_uc010bib.2_Missense_Mutation_p.R1074W	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1073	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GGGACCAGCCGTATATTGCAG	0.547												
CORO2B	10391	broad.mit.edu	37	15	69011069	69011069	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69011069G>A	uc002arj.3	+	9	1029	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	CORO2B_uc010bic.2_Missense_Mutation_p.A329T|CORO2B_uc002ark.2_Missense_Mutation_p.A101T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	334					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						GGATGTGTCAGCCTGCGAGGT	0.602												
KIF23	9493	broad.mit.edu	37	15	69728003	69728003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69728003C>T	uc002asb.2	+	12	1282	c.1165C>T	c.(1165-1167)CGA>TGA	p.R389*	KIF23_uc002asc.2_Nonsense_Mutation_p.R389*|KIF23_uc010bii.2_Nonsense_Mutation_p.R279*|KIF23_uc010ukc.1_Nonsense_Mutation_p.R206*|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	389					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						GGTTCCATATCGAGATTCAAA	0.388												
THSD4	79875	broad.mit.edu	37	15	71952908	71952908	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71952908G>A	uc002atb.1	+	7	1271	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	THSD4_uc002atd.1_Missense_Mutation_p.V72M|THSD4_uc010ukg.1_Missense_Mutation_p.V38M|THSD4_uc002ate.2_Missense_Mutation_p.V38M	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	398						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CGACAAAGTCGTGGACAAATG	0.517												
LMAN1L	79748	broad.mit.edu	37	15	75108770	75108770	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:75108770C>T	uc002ayt.1	+	3	335	c.333C>T	c.(331-333)GCC>GCT	p.A111A	LMAN1L_uc010bkd.2_Silent_p.A39A|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.A111A	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	111	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						ACCTGCAGGCCGTGTGGTACA	0.667												
AGPHD1	123688	broad.mit.edu	37	15	78825552	78825552	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:78825552G>A	uc010unc.1	+	5	775	c.662G>A	c.(661-663)TGT>TAT	p.C221Y	AGPHD1_uc010ble.2_Intron	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	221						cytoplasm	kinase activity				0						CTACTTTCAGGTATCAATCAC	0.353												
KIAA1199	57214	broad.mit.edu	37	15	81218066	81218066	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:81218066G>A	uc002bfw.1	+	18	2650	c.2390G>A	c.(2389-2391)CGC>CAC	p.R797H	KIAA1199_uc010unn.1_Missense_Mutation_p.R797H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	797										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GCCTGGCTGCGCGGCGGGGAT	0.662												
ZNF710	374655	broad.mit.edu	37	15	90622982	90622982	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:90622982C>T	uc002bov.1	+	5	2039	c.1916C>T	c.(1915-1917)GCG>GTG	p.A639V		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TACAGCTATGCGAGCGTGGAC	0.577												
FES	2242	broad.mit.edu	37	15	91433191	91433191	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:91433191C>T	uc002bpv.2	+	8	1144	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	FES_uc010uqj.1_Missense_Mutation_p.R292W|FES_uc010uqk.1_Missense_Mutation_p.R332W|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.R292W|FES_uc002bpx.2_Missense_Mutation_p.R350W|FES_uc002bpy.2_Missense_Mutation_p.R292W	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	350	Potential.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCCGGGAGCGGTGAGTGGG	0.652												
SV2B	9899	broad.mit.edu	37	15	91769717	91769717	+	Missense_Mutation	SNP	G	G	A	rs35575298		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:91769717G>A	uc002bqv.2	+	1	615	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	SV2B_uc002bqt.2_Missense_Mutation_p.R75Q|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	75	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACAGCCTTCGGGGCCAGACA	0.587												
ALDH1A3	220	broad.mit.edu	37	15	101433160	101433160	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:101433160C>T	uc002bwn.3	+	5	590	c.486C>T	c.(484-486)GTC>GTT	p.V162V	ALDH1A3_uc010bpb.2_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	162					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATGACAACGTCGTGTGCTTCA	0.483												
LRRK1	79705	broad.mit.edu	37	15	101602777	101602777	+	Splice_Site	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:101602777A>C	uc002bwr.2	+	31	5117	c.4798_splice	c.e31-2	p.D1600_splice	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Splice_Site|LRRK1_uc002bws.2_Splice_Site	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCCTCTGCAGGACCAGAAA	0.547												
MSLNL	401827	broad.mit.edu	37	16	830214	830214	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:830214C>T	uc002cjz.1	-	3	787	c.787G>A	c.(787-789)GAT>AAT	p.D263N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GCCGGGGCATCCGGGTCCCAG	0.677												
PKD1	5310	broad.mit.edu	37	16	2156666	2156666	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2156666G>A	uc002cos.1	-	18	7431	c.7222C>T	c.(7222-7224)CGT>TGT	p.R2408C	PKD1_uc002cot.1_Missense_Mutation_p.R2408C|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2408	Extracellular (Potential).|REJ.		R -> C (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTGAACGTACGTGCAGCCCAC	0.692												
CASKIN1	57524	broad.mit.edu	37	16	2233682	2233682	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2233682G>T	uc010bsg.1	-	16	1626	c.1594C>A	c.(1594-1596)CTA>ATA	p.L532I		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	532	SAM 1.				signal transduction	cytoplasm				skin(2)	2						GGGATGCTTAGGCCGCTGATC	0.562												
DCI	1632	broad.mit.edu	37	16	2293329	2293329	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2293329C>T	uc002cpr.2	-	5	589	c.553G>A	c.(553-555)GCC>ACC	p.A185T	DCI_uc002cps.2_Intron	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	185					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						CAGAAAGGGGCGATGATGCCC	0.622												
ABCA3	21	broad.mit.edu	37	16	2374467	2374467	+	Missense_Mutation	SNP	C	C	T	rs137924161	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2374467C>T	uc002cpy.1	-	6	1097	c.385G>A	c.(385-387)GTG>ATG	p.V129M	ABCA3_uc010bsk.1_Missense_Mutation_p.V129M|ABCA3_uc010bsl.1_Missense_Mutation_p.V129M|ABCA3_uc002cpz.1_Missense_Mutation_p.V129M	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	129					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCGGCCAGCACGCTGGACGAG	0.637												
PRSS21	10942	broad.mit.edu	37	16	2868703	2868703	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2868703G>T	uc002crt.2	+	4	389	c.283G>T	c.(283-285)GGG>TGG	p.G95W	PRSS21_uc002crs.2_Missense_Mutation_p.G93W|PRSS21_uc002crr.2_Missense_Mutation_p.G95W	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	95	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						TGATCCCTCCGGGTGGATGGT	0.567												
MMP25	64386	broad.mit.edu	37	16	3097522	3097522	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3097522C>T	uc002cth.2	+	2	443	c.206C>T	c.(205-207)GCG>GTG	p.A69V	MMP25_uc002cti.1_Missense_Mutation_p.A5V	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	69					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CAGAGGTTCGCGGGGCTGCCG	0.672												
ZNF174	7727	broad.mit.edu	37	16	3458560	3458560	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3458560C>A	uc002cvc.2	+	3	1680	c.865C>A	c.(865-867)CTA>ATA	p.L289I		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	289					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						CAGCAGCCCCCTAAAAAGCCA	0.527												
ZNF597	146434	broad.mit.edu	37	16	3486537	3486537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3486537G>A	uc002cvd.2	-	4	1346	c.1162C>T	c.(1162-1164)CAG>TAG	p.Q388*		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGCTCTTCTGGTGGCATGCA	0.388												
DNASE1	1773	broad.mit.edu	37	16	3707055	3707055	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3707055C>T	uc002cvr.2	+	6	2599	c.492C>T	c.(490-492)GCC>GCT	p.A164A		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	164					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	ACGCAGTAGCCGAGATCGACG	0.642								Direct_reversal_of_damage				
CREBBP	1387	broad.mit.edu	37	16	3808953	3808953	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3808953G>A	uc002cvv.2	-	17	3475	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1053C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1091					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGCCTGGCGTAACTCCTCT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
SEPT12	124404	broad.mit.edu	37	16	4837628	4837628	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:4837628A>G	uc002cxq.2	-	2	160	c.19T>C	c.(19-21)TCC>CCC	p.S7P	SEPT12_uc002cxr.2_Missense_Mutation_p.S7P|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	7					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						GGAGAGGGGGAGCGCCTCAGG	0.667												
C16orf89	146556	broad.mit.edu	37	16	5106074	5106074	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:5106074C>T	uc010bud.2	-	5	945	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.R286Q	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	248						extracellular region				ovary(1)|skin(1)	2						GAAGATGTCCCGGGTAGGGTA	0.493												
ATF7IP2	80063	broad.mit.edu	37	16	10551245	10551245	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10551245C>T	uc002czu.2	+	7	1438	c.1211C>T	c.(1210-1212)GCT>GTT	p.A404V	ATF7IP2_uc002czv.2_Missense_Mutation_p.A404V|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.A404V|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AATTCAGAGGCTATGATTTTG	0.318												
TEKT5	146279	broad.mit.edu	37	16	10721647	10721647	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10721647G>A	uc002czz.1	-	7	1323	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	417					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGAACACCTCGTTCACCAGCC	0.453												
SNX29	92017	broad.mit.edu	37	16	12618643	12618643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:12618643G>A	uc002dby.3	+	13	1164	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	370	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1						GATGGTCCCCGAGTTCGCTGC	0.557												
RRN3	54700	broad.mit.edu	37	16	15178534	15178534	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:15178534G>A	uc002dde.2	-	7	629	c.561C>T	c.(559-561)CAC>CAT	p.H187H	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Silent_p.H88H|RRN3_uc010uzq.1_Silent_p.H157H|RRN3_uc002ddf.1_Silent_p.H187H	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	187					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						GCAAGGCTCTGTGACATGTGT	0.328												
ABCC1	4363	broad.mit.edu	37	16	16146642	16146642	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:16146642C>A	uc010bvi.2	+	11	1617	c.1442C>A	c.(1441-1443)GCT>GAT	p.A481D	ABCC1_uc010bvj.2_Missense_Mutation_p.A481D|ABCC1_uc010bvk.2_Missense_Mutation_p.A481D|ABCC1_uc010bvl.2_Missense_Mutation_p.A481D|ABCC1_uc010bvm.2_Missense_Mutation_p.A481D|ABCC1_uc002del.3_Missense_Mutation_p.A365D|ABCC1_uc010bvn.2_Missense_Mutation_p.A344D	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	481	Helical; Name=9.|ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCGTCAATGCTGTGATGGCG	0.567												
ACSM1	116285	broad.mit.edu	37	16	20673143	20673143	+	Missense_Mutation	SNP	C	C	T	rs146842441		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:20673143C>T	uc002dhm.1	-	6	1033	c.965G>A	c.(964-966)CGA>CAA	p.R322Q	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R322Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	322					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CAGAATCATTCGATATATAGA	0.358												
GGA2	23062	broad.mit.edu	37	16	23499987	23499987	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:23499987T>C	uc002dlq.2	-	6	595	c.519A>G	c.(517-519)TTA>TTG	p.L173L	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	173					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		ATGGTGGGGGTAAGATTTTAT	0.408												
IL27	246778	broad.mit.edu	37	16	28515226	28515226	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:28515226G>A	uc002dqc.2	-	2	200	c.177C>T	c.(175-177)TCC>TCT	p.S59S	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	59					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CCCGAACCTCGGAGAGCAGCT	0.652												
EIF3CL	728689	broad.mit.edu	37	16	28734621	28734621	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:28734621C>T	uc010byj.2	+	10	1005	c.916C>T	c.(916-918)CGG>TGG	p.R306W	uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.R305W|EIF3CL_uc002dqs.3_Missense_Mutation_p.R305W|EIF3C_uc002dqt.3_Missense_Mutation_p.R305W|EIF3CL_uc010vcy.1_Missense_Mutation_p.R295W|EIF3C_uc002dqu.3_Missense_Mutation_p.R305W|EIF3CL_uc002dqv.3_Missense_Mutation_p.R51W	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN	eukaryotic translation initiation factor 3,	306						eukaryotic translation initiation factor 3 complex	translation initiation factor activity				0						GGAAAGGGTCCGGGGCGGAGT	0.537												
ATP2A1	487	broad.mit.edu	37	16	28911961	28911961	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:28911961G>A	uc002dro.1	+	15	2008	c.1824G>A	c.(1822-1824)ACG>ACA	p.T608T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T608T|ATP2A1_uc002drp.1_Silent_p.T483T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	608	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGGAGGTCACGGGCTCCATCC	0.617												
SEPT1	1731	broad.mit.edu	37	16	30392536	30392536	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30392536C>A	uc002dxy.2	-	7	657	c.470G>T	c.(469-471)CGG>CTG	p.R157L	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	157					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GTGTACTGCCCGGAGGAAGGC	0.607												
SRCAP	10847	broad.mit.edu	37	16	30723028	30723028	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30723028G>A	uc002dze.1	+	11	1840	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.A342A|SRCAP_uc010bzz.1_Silent_p.A55A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	485	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCGTGGAAGCGGAAGAGCCTC	0.547												
FBXL19	54620	broad.mit.edu	37	16	30958185	30958185	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30958185G>A	uc002eab.2	+	10	1980	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	FBXL19_uc002dzz.1_Missense_Mutation_p.A296T|FBXL19_uc002eaa.1_Missense_Mutation_p.A507T|ORAI3_uc002eac.2_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	608	LRR 4.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						GAGCCACTGCGCCCACGTCGG	0.672												
PRSS53	339105	broad.mit.edu	37	16	31096300	31096300	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:31096300C>T	uc002eaq.2	-	8	1080	c.1080G>A	c.(1078-1080)CCG>CCA	p.P360P	PRSS53_uc002ear.2_Silent_p.P154P	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	360	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity				0						CCCACTCCTCCGGTCTGGTCC	0.687												
ITGAM	3684	broad.mit.edu	37	16	31332935	31332935	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:31332935T>C	uc002ebq.2	+	16	2087	c.1989T>C	c.(1987-1989)GAT>GAC	p.D663D	ITGAM_uc002ebr.2_Silent_p.D664D|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Silent_p.D69D|ITGAM_uc002ebs.1_Silent_p.D69D	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	663	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GCACACGGGATCGGCTAAGAG	0.527												
PHKB	5257	broad.mit.edu	37	16	47730354	47730354	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:47730354G>A	uc002eev.3	+	29	3010	c.2958G>A	c.(2956-2958)ACG>ACA	p.T986T	PHKB_uc002eeu.3_Silent_p.T979T|PHKB_uc002eew.3_Silent_p.T227T	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGAAGACACGTTGGGAAATA	0.408												
N4BP1	9683	broad.mit.edu	37	16	48595821	48595821	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:48595821A>G	uc002efp.2	-	2	970	c.733T>C	c.(733-735)TCT>CCT	p.S245P		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	245					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GTAAGCTCAGAAACAGGAGTC	0.418												
ZNF423	23090	broad.mit.edu	37	16	49671871	49671871	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:49671871G>A	uc002efs.2	-	5	1490	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	ZNF423_uc010vgn.1_Missense_Mutation_p.R281W	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCGTCATCCCGCATCTTCTTC	0.637												
SALL1	6299	broad.mit.edu	37	16	51185147	51185147	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:51185147C>T	uc010vgs.1	-	1	37	c.6G>A	c.(4-6)TCG>TCA	p.S2S	SALL1_uc010vgr.1_5'Flank|SALL1_uc010cbv.2_Missense_Mutation_p.R7H	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	2					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTTCCTCCGCGACATGCTGG	0.458												
IRX6	79190	broad.mit.edu	37	16	55362834	55362834	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:55362834G>A	uc002ehy.2	+	5	1477	c.944G>A	c.(943-945)CGC>CAC	p.R315H	IRX6_uc002ehx.2_Missense_Mutation_p.R315H	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GCTGCGCCCCGCTTCTCCTTC	0.637												
CCDC135	84229	broad.mit.edu	37	16	57756637	57756637	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:57756637G>A	uc002emi.2	+	10	1381	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CCDC135_uc002emj.2_Missense_Mutation_p.R431H|CCDC135_uc002emk.2_Missense_Mutation_p.R366H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	431						cytoplasm				central_nervous_system(1)	1						TTTGAGACCCGCTGCCCGAAC	0.592												
CNGB1	1258	broad.mit.edu	37	16	57931400	57931400	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:57931400G>A	uc002emt.2	-	31	3208	c.3143C>T	c.(3142-3144)GCG>GTG	p.A1048V	CNGB1_uc010cdh.2_Missense_Mutation_p.A1042V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1048	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						AAACCCGTGCGCCACCACGTT	0.572												
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	rs149972398		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:58319950G>A	uc002enf.2	-	5	808	c.413C>T	c.(412-414)GCG>GTG	p.A138V	PRSS54_uc002eng.2_Missense_Mutation_p.A138V|PRSS54_uc010vie.1_Missense_Mutation_p.A39V	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AAAATGCATCGCTGTGTCTGT	0.493												
ZDHHC1	29800	broad.mit.edu	37	16	67433331	67433331	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67433331A>G	uc010vjm.1	-	5	761	c.457T>C	c.(457-459)TGC>CGC	p.C153R		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	153	DHHC-type.					integral to membrane	DNA binding|zinc ion binding				0		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CACTTGTTGCAGGCGCTGCAG	0.692												
FUK	197258	broad.mit.edu	37	16	70500827	70500827	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:70500827G>A	uc002eyy.2	+	6	512	c.454G>A	c.(454-456)GAC>AAC	p.D152N	FUK_uc010vmb.1_Missense_Mutation_p.D135N|FUK_uc010cft.2_Missense_Mutation_p.D184N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	152						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CTGCAGCACCGACATGCTGCT	0.642												
HYDIN	54768	broad.mit.edu	37	16	70977741	70977741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:70977741C>T	uc002ezr.2	-	42	6768	c.6640G>A	c.(6640-6642)GTG>ATG	p.V2214M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2215										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGATCTGCACGAGAAGTTCA	0.637												
MARVELD3	91862	broad.mit.edu	37	16	71668550	71668550	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:71668550C>T	uc002fat.2	+	3	1113	c.1050C>T	c.(1048-1050)AGC>AGT	p.S350S	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	350	MARVEL.|Extracellular (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				AAGGCTACAGCGGTTTCGGCT	0.552												
AP1G1	164	broad.mit.edu	37	16	71779114	71779114	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:71779114C>T	uc010cgg.2	-	19	2246	c.1932G>A	c.(1930-1932)GCG>GCA	p.A644A	AP1G1_uc002fba.2_Silent_p.A647A|AP1G1_uc002fbb.2_Silent_p.A667A|AP1G1_uc002faz.2_Silent_p.A61A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	644					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				TGCTTGTAGGCGCAGTTGGAA	0.408												
HPR	3250	broad.mit.edu	37	16	72110691	72110691	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72110691C>T	uc002fby.2	+	5	788	c.758C>T	c.(757-759)ACG>ATG	p.T253M	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	253	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				GATTGCATAACGCATTATGAA	0.507												
PMFBP1	83449	broad.mit.edu	37	16	72174448	72174448	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72174448G>A	uc002fcc.3	-	6	842	c.670C>T	c.(670-672)CGG>TGG	p.R224W	PMFBP1_uc002fcd.2_Missense_Mutation_p.R224W|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.R79W	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	224										ovary(2)	2		Ovarian(137;0.179)				GTGTATATCCGTACCTTTGAA	0.398												
FA2H	79152	broad.mit.edu	37	16	74750315	74750315	+	Silent	SNP	C	C	T	rs144071567	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:74750315C>T	uc002fde.1	-	6	1037	c.969G>A	c.(967-969)CCG>CCA	p.P323P	FA2H_uc002fdd.1_Silent_p.P96P|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	323					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						AGCCCTTGTGCGGCGAGCCAA	0.607												
CHST5	23563	broad.mit.edu	37	16	75563591	75563591	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:75563591C>T	uc002fei.2	-	3	2087	c.692G>A	c.(691-693)CGC>CAC	p.R231H	CHST5_uc002fej.1_Missense_Mutation_p.R237H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	231	Lumenal (Potential).|PAPS (By similarity).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CTCCCGGGAGCGCAGCACGGC	0.701												
CHST5	23563	broad.mit.edu	37	16	75563611	75563611	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:75563611G>A	uc002fei.2	-	3	2067	c.672C>T	c.(670-672)CGC>CGT	p.R224R	CHST5_uc002fej.1_Silent_p.R230R	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	224	Lumenal (Potential).|PAPS (By similarity).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCCGCGGGTCGCGCACCAGGT	0.706												
PKD1L2	114780	broad.mit.edu	37	16	81167248	81167248	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:81167248G>T	uc002fgh.1	-	35	5777	c.5777C>A	c.(5776-5778)CCT>CAT	p.P1926H	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1926	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCGGTGAGAGGTGGCTGGTA	0.552												
BCMO1	53630	broad.mit.edu	37	16	81320986	81320986	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:81320986G>A	uc002fgn.1	+	10	1607	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	BCMO1_uc010vnp.1_Silent_p.A394A	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	463					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						TTGTGCCCGCGCCAGGTGCCA	0.517												
HSDL1	83693	broad.mit.edu	37	16	84163848	84163848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84163848G>A	uc002fhk.2	-	4	593	c.409C>T	c.(409-411)CGA>TGA	p.R137*	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	137						mitochondrion	oxidoreductase activity|protein binding				0						AGGGCTTCTCGAATTGGAAGG	0.473												
KCNG4	93107	broad.mit.edu	37	16	84270841	84270841	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84270841C>T	uc010voc.1	-	2	372	c.251G>A	c.(250-252)CGC>CAC	p.R84H	KCNG4_uc002fhu.1_Missense_Mutation_p.R84H	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	84	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TTTGCTCAGGCGGCTCAGCGG	0.612												
WFDC1	58189	broad.mit.edu	37	16	84353123	84353123	+	Missense_Mutation	SNP	G	G	A	rs143106490	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84353123G>A	uc002fhw.2	+	4	685	c.508G>A	c.(508-510)GTG>ATG	p.V170M	WFDC1_uc002fhv.2_Missense_Mutation_p.V170M	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	170					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1						CCCAGGTGACGTGGCCGAAGG	0.672												
KIAA0182	23199	broad.mit.edu	37	16	85688440	85688440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:85688440G>A	uc002fix.2	+	5	714	c.640G>A	c.(640-642)GTG>ATG	p.V214M	KIAA0182_uc002fiw.2_Missense_Mutation_p.V110M|KIAA0182_uc002fiy.2_Missense_Mutation_p.V141M	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	214							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CCCCAGTACCGTGACCGAGGA	0.682												
FBXO31	79791	broad.mit.edu	37	16	87393948	87393948	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:87393948C>T	uc002fjw.2	-	2	409	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	FBXO31_uc010vot.1_5'UTR|FBXO31_uc002fjv.2_Missense_Mutation_p.R14Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	122					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTCCAGCTTCCGCAAGTTTTC	0.458												
CDT1	81620	broad.mit.edu	37	16	88871863	88871863	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:88871863C>T	uc002flu.2	+	4	558	c.504C>T	c.(502-504)CCC>CCT	p.P168P		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	168	Interaction with GMNN.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAAGGCGCCCGCCTACCAGC	0.677												
DPEP1	1800	broad.mit.edu	37	16	89704614	89704614	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:89704614G>A	uc010cin.2	+	11	1423	c.1220G>A	c.(1219-1221)TGT>TAT	p.C407Y	DPEP1_uc002fnr.3_Missense_Mutation_p.C407Y|DPEP1_uc002fns.3_Missense_Mutation_p.C407Y	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	407					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGGTCCTCTGTCTGTCTCTC	0.657												
FANCA	2175	broad.mit.edu	37	16	89849416	89849416	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:89849416T>C	uc002fou.1	-	16	1607	c.1565A>G	c.(1564-1566)AAG>AGG	p.K522R	FANCA_uc010vpn.1_Missense_Mutation_p.K522R	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	522					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACAGCTTGCCTTGAGGTCGGC	0.547			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
RNMTL1	55178	broad.mit.edu	37	17	691291	691291	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:691291A>C	uc002frw.2	+	3	752	c.646A>C	c.(646-648)AAT>CAT	p.N216H		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	216					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GATTTGTGACAATCTCCGTGA	0.443												
ABR	29	broad.mit.edu	37	17	961263	961263	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:961263G>A	uc002fsd.2	-	12	1438	c.1328C>T	c.(1327-1329)TCG>TTG	p.S443L	ABR_uc002fse.2_Missense_Mutation_p.S397L|ABR_uc010vqg.1_Missense_Mutation_p.S225L|ABR_uc002fsg.2_Missense_Mutation_p.S406L|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	443	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCGTAGTCCGAGGACAGTAG	0.463												
SRR	63826	broad.mit.edu	37	17	2226993	2226993	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:2226993A>G	uc002fue.1	+	8	917	c.849A>G	c.(847-849)GAA>GAG	p.E283E	SRR_uc002fui.1_Silent_p.E134E|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	283					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TACTCATTGAACCTACAGCTG	0.453												
TRPV1	7442	broad.mit.edu	37	17	3494642	3494642	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:3494642A>G	uc010vrr.1	-	2	817	c.290T>C	c.(289-291)CTG>CCG	p.L97P	TRPV1_uc010vro.1_Missense_Mutation_p.L97P|TRPV1_uc010vrp.1_Missense_Mutation_p.L97P|TRPV1_uc010vrq.1_Missense_Mutation_p.C72R|TRPV1_uc010vrs.1_Missense_Mutation_p.L97P|TRPV1_uc010vrt.1_Missense_Mutation_p.L97P|TRPV1_uc010vru.1_Missense_Mutation_p.L97P	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	97	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTCCTGGGACAGCAGCCTGTG	0.582												
ITGAE	3682	broad.mit.edu	37	17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:3620083C>T	uc002fwo.3	-	30	3442	c.3343G>A	c.(3343-3345)GTC>ATC	p.V1115I	ITGAE_uc002fwn.3_RNA	NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	1115	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408												
ZMYND15	84225	broad.mit.edu	37	17	4645308	4645308	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4645308G>A	uc002fyt.2	+	4	965	c.926G>A	c.(925-927)CGT>CAT	p.R309H	CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.R309H|ZMYND15_uc002fyu.2_Missense_Mutation_p.R309H	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	309							zinc ion binding				0						GCTTCCCTTCGTGCTCGAACC	0.582												
CAMTA2	23125	broad.mit.edu	37	17	4885437	4885437	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4885437C>T	uc002gah.1	-	6	466	c.358G>A	c.(358-360)GTT>ATT	p.V120I	CAMTA2_uc010cku.1_Missense_Mutation_p.V143I|CAMTA2_uc002gag.1_Intron|CAMTA2_uc002gai.1_Missense_Mutation_p.V122I|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_5'UTR	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	120	CG-1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAAGAGTGAACGTAGCAGCCA	0.592												
ALOX12	239	broad.mit.edu	37	17	6913317	6913317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:6913317C>T	uc002gdx.3	+	13	1737	c.1684C>T	c.(1684-1686)CGG>TGG	p.R562W	uc002gdy.1_Intron|ALOX12_uc002gdz.3_Missense_Mutation_p.R32W|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	562	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						ATGCACAATGCGGATGCCCCC	0.547												
EIF5A	1984	broad.mit.edu	37	17	7214736	7214736	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7214736G>A	uc010vtv.1	+	4	575	c.338G>A	c.(337-339)CGT>CAT	p.R113H	EIF5A_uc002gfr.2_Missense_Mutation_p.R143H|EIF5A_uc002gft.2_Missense_Mutation_p.R113H|EIF5A_uc002gfu.2_Missense_Mutation_p.R113H	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	113					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						GAGGACCTTCGTCTCCCTGAG	0.572												
ACAP1	9744	broad.mit.edu	37	17	7250404	7250404	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7250404G>A	uc002ggd.2	+	14	1392	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	396					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TGGTGGAATGGCCAGGGGAAG	0.677												
AMAC1L3	643664	broad.mit.edu	37	17	7386191	7386191	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7386191G>A	uc010cmj.1	+	2	1003	c.888G>A	c.(886-888)CTG>CTA	p.L296L	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	296	DUF6 2.|Helical; (Potential).					integral to membrane					0		Prostate(122;0.173)				CCCTTATACTGCAGTATTATA	0.577												
FXR2	9513	broad.mit.edu	37	17	7495831	7495831	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7495831G>A	uc002gia.1	-	15	2043	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	606						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCTGGCTGGCGGTCTCCACTG	0.557												
TP53	7157	broad.mit.edu	37	17	7579473	7579473	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7579473G>A	uc002gim.2	-	4	408	c.214C>T	c.(214-216)CCC>TCC	p.P72S	TP53_uc002gig.1_Missense_Mutation_p.P72S|TP53_uc002gih.2_Missense_Mutation_p.P72S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72S|TP53_uc010cni.1_Missense_Mutation_p.P72S|TP53_uc002gij.2_Missense_Mutation_p.P72S|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33S|TP53_uc010cnk.1_Missense_Mutation_p.P87S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72	Interaction with WWOX.|Interaction with HRMT1L2.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGCCACGGGGGGAGCAGCC	0.602		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CHD3	1107	broad.mit.edu	37	17	7814252	7814252	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7814252G>A	uc002gje.2	+	39	5992	c.5842G>A	c.(5842-5844)GCC>ACC	p.A1948T	CHD3_uc002gjd.2_Missense_Mutation_p.A2007T|CHD3_uc002gjf.2_Missense_Mutation_p.A1914T|CHD3_uc002gjh.2_Missense_Mutation_p.A525T|CHD3_uc002gjj.2_Missense_Mutation_p.A111T	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1948	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CGCCGCAGGCGCCAATTACAG	0.627												
MFSD6L	162387	broad.mit.edu	37	17	8701011	8701011	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:8701011C>A	uc002glp.1	-	1	1576	c.1428G>T	c.(1426-1428)GGG>GGT	p.G476G		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	476	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						CTACTGAGGCCCCCACAGCCC	0.592												
MYH4	4622	broad.mit.edu	37	17	10362628	10362628	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:10362628G>A	uc002gmn.2	-	15	1638	c.1527C>T	c.(1525-1527)ATC>ATT	p.I509I	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	509	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ACTCCCACTCGATGCCTTCCT	0.473												
MYH2	4620	broad.mit.edu	37	17	10440997	10440997	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:10440997G>A	uc010coi.2	-	15	1700	c.1572C>T	c.(1570-1572)ATC>ATT	p.I524I	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I524I|MYH2_uc010coj.2_Silent_p.I524I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	524	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CGATGAGCTCGATGCAGGCAG	0.433												
DNAH9	1770	broad.mit.edu	37	17	11656223	11656223	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:11656223C>T	uc002gne.2	+	33	6752	c.6684C>T	c.(6682-6684)GGC>GGT	p.G2228G	DNAH9_uc010coo.2_Silent_p.G1522G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2228	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGGATGGCGACATAGATC	0.433												
HS3ST3A1	9955	broad.mit.edu	37	17	13400018	13400018	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:13400018G>A	uc002gob.1	-	2	1515	c.717C>T	c.(715-717)ATC>ATT	p.I239I		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	239	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCACCACCACGATGAGCTTGG	0.637												
NCOR1	9611	broad.mit.edu	37	17	16024412	16024412	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:16024412C>T	uc002gpo.2	-	16	2046	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A	NCOR1_uc002gpn.2_Silent_p.A602A|NCOR1_uc002gpp.1_Silent_p.A493A|NCOR1_uc002gpr.2_Silent_p.A493A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	602	Poly-Ala.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCAGTAGCCGCTGCGGCTG	0.587												
TRPV2	51393	broad.mit.edu	37	17	16326906	16326906	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:16326906A>G	uc002gpy.2	+	5	1116	c.749A>G	c.(748-750)CAT>CGT	p.H250R	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	250	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACAGTCCTGCATGCCCTAGTG	0.602												
SREBF1	6720	broad.mit.edu	37	17	17723585	17723585	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:17723585G>A	uc002gru.1	-	2	536	c.342C>T	c.(340-342)CCC>CCT	p.P114P	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P90P|SREBF1_uc002grt.1_Silent_p.P144P|SREBF1_uc010cpp.1_Silent_p.P90P|SREBF1_uc010cpq.1_Silent_p.P114P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	114	Pro/Ser-rich.|Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGGAGAAAGCGGGCATGGACG	0.657												
MYO15A	51168	broad.mit.edu	37	17	18022705	18022705	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18022705C>T	uc010vxh.1	+	2	929	c.591C>T	c.(589-591)TAC>TAT	p.Y197Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	197	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCAGCATCTACGCGTCAGGCG	0.706												
SLC5A10	125206	broad.mit.edu	37	17	18872443	18872443	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18872443G>T	uc002guu.1	+	6	573	c.532G>T	c.(532-534)GGC>TGC	p.G178C	SLC5A10_uc002gur.1_Missense_Mutation_p.G122C|SLC5A10_uc002gut.1_Missense_Mutation_p.G178C|SLC5A10_uc002guv.1_Missense_Mutation_p.G178C|SLC5A10_uc010vyl.1_Missense_Mutation_p.G178C	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	178	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCTCACGCTCGGCATCACAGC	0.622												
SUPT6H	6830	broad.mit.edu	37	17	27008369	27008369	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27008369C>T	uc002hby.2	+	12	1535	c.1445C>T	c.(1444-1446)GCC>GTC	p.A482V	SUPT6H_uc010crt.2_Missense_Mutation_p.A482V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	482					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CAGAACGCCGCCAAAGCTAGC	0.428												
NEK8	284086	broad.mit.edu	37	17	27064512	27064512	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27064512G>A	uc002hcp.2	+	5	807	c.807G>A	c.(805-807)GTG>GTA	p.V269V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	269						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					ACACCGACGTGGGCAGTGTCC	0.677												
NEK8	284086	broad.mit.edu	37	17	27068452	27068452	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27068452G>A	uc002hcp.2	+	14	1913	c.1913G>A	c.(1912-1914)GGC>GAC	p.G638D	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	638	RCC1 5.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					TACTCTTGGGGCAAAGGGGCG	0.607												
ANKRD13B	124930	broad.mit.edu	37	17	27937743	27937743	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27937743G>A	uc002hei.2	+	8	976	c.863G>A	c.(862-864)CGG>CAG	p.R288Q	ANKRD13B_uc002heh.2_Missense_Mutation_p.R156Q|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288											0						ACCCGCACACGGACAGAACAT	0.547												
PSMD11	5717	broad.mit.edu	37	17	30796128	30796128	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:30796128G>A	uc010cta.1	+	6	600	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	PSMD11_uc010wbz.1_Missense_Mutation_p.R187Q|PSMD11_uc002hhm.2_Missense_Mutation_p.R187Q	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGAAAGCCCGAGCTGCCTTA	0.502												
AP2B1	163	broad.mit.edu	37	17	33977595	33977595	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:33977595G>A	uc002hjr.2	+	13	1772	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	AP2B1_uc002hjq.2_Missense_Mutation_p.R528H|AP2B1_uc010wci.1_Missense_Mutation_p.R490H|AP2B1_uc002hjs.2_Missense_Mutation_p.R471H|AP2B1_uc002hjt.2_Missense_Mutation_p.R528H|AP2B1_uc010ctv.2_Missense_Mutation_p.R528H|AP2B1_uc010wcj.1_Missense_Mutation_p.R265H	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	528					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATTTATTGGCGCCTTCTCTCA	0.463												
CWC25	54883	broad.mit.edu	37	17	36962649	36962649	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:36962649C>T	uc002hqu.2	-	8	1056	c.903_splice	c.e8-1	p.L301_splice	CWC25_uc010wdv.1_Splice_Site_p.L238_splice|CWC25_uc010wdw.1_Splice_Site	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49												0						AGAGTTGTGCCTGTAGCAGAC	0.488												
CASC3	22794	broad.mit.edu	37	17	38320262	38320262	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:38320262A>G	uc010cwt.1	+	7	1609	c.1314A>G	c.(1312-1314)CCA>CCG	p.P438P	CASC3_uc010cws.1_Silent_p.P438P|CASC3_uc002hue.2_Silent_p.P438P	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	438	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGTCCCAGAAACCACCC	0.532												
KRTAP4-4	84616	broad.mit.edu	37	17	39316818	39316818	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:39316818C>T	uc002hwc.2	-	1	166	c.126G>A	c.(124-126)GTG>GTA	p.V42V		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	42	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|5.		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGACACACAGCAGC	0.657												
ACLY	47	broad.mit.edu	37	17	40065856	40065856	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:40065856T>G	uc002hyg.2	-	5	606	c.443A>C	c.(442-444)AAG>ACG	p.K148T	ACLY_uc002hyh.2_Missense_Mutation_p.K148T|ACLY_uc002hyi.2_Missense_Mutation_p.K202T|ACLY_uc010wfx.1_Missense_Mutation_p.K202T|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	148					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CTTCTGGGCCTTGGCGTCCAC	0.542												
MLX	6945	broad.mit.edu	37	17	40720502	40720502	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:40720502A>T	uc002iag.2	+	3	321	c.256A>T	c.(256-258)AGC>TGC	p.S86C	MLX_uc002iaf.2_Missense_Mutation_p.S32C|MLX_uc002iah.2_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	86	Basic motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTTTGTAGAAAGCACCCGCAA	0.547												
MPP3	4356	broad.mit.edu	37	17	41898340	41898340	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:41898340C>T	uc002iei.3	-	11	937	c.771G>A	c.(769-771)AGG>AGA	p.R257R	MPP3_uc002ieh.2_Silent_p.R282R|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.R257R|MPP3_uc010wik.1_Silent_p.R282R	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	257	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CCAGGACCTGCCTGCGCTGGA	0.682												
SLC4A1	6521	broad.mit.edu	37	17	42335477	42335477	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42335477G>A	uc002igf.3	-	11	1308	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	SLC4A1_uc002igg.3_Missense_Mutation_p.R387W	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	387	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TAGCGGCGCCGGATATCACGC	0.582												
GPATCH8	23131	broad.mit.edu	37	17	42476612	42476612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42476612G>A	uc002igw.1	-	8	2897	c.2833C>T	c.(2833-2835)CGA>TGA	p.R945*	GPATCH8_uc002igv.1_Nonsense_Mutation_p.R867*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.R867*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	945	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTCCGAGATCGGCTTCGGGAC	0.542												
GPATCH8	23131	broad.mit.edu	37	17	42477897	42477897	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42477897G>T	uc002igw.1	-	8	1612	c.1548C>A	c.(1546-1548)ACC>ACA	p.T516T	GPATCH8_uc002igv.1_Silent_p.T438T|GPATCH8_uc010wiz.1_Silent_p.T438T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	516						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCCAGAGAGGTTTCTTTAG	0.478											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NMT1	4836	broad.mit.edu	37	17	43181224	43181224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:43181224G>A	uc002ihz.2	+	10	1330	c.1312G>A	c.(1312-1314)GCC>ACC	p.A438T	NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Missense_Mutation_p.A98T	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	438					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				CATGAGCGACGCCCTTGTCCT	0.567												
OSBPL7	114881	broad.mit.edu	37	17	45894054	45894054	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:45894054C>T	uc002ilx.1	-	10	1006	c.803G>A	c.(802-804)CGT>CAT	p.R268H	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	268					lipid transport		lipid binding				0						GCCATGGAGACGACCAACCTG	0.642												
CHAD	1101	broad.mit.edu	37	17	48543170	48543170	+	Missense_Mutation	SNP	C	C	T	rs142146358		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48543170C>T	uc010dbr.2	-	2	889	c.836G>A	c.(835-837)CGC>CAC	p.R279H	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.R279H|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	279	LRR 9.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTGGTTCAAGCGGTTGTTCTC	0.473												
CHAD	1101	broad.mit.edu	37	17	48545679	48545679	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48545679C>T	uc010dbr.2	-	1	549	c.496G>A	c.(496-498)GCC>ACC	p.A166T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.A166T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	166	LRR 4.			A -> P (in Ref. 1; AAC13410).	regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCTGGAAGGCGCCTGCGCGC	0.632												
WFIKKN2	124857	broad.mit.edu	37	17	48917804	48917804	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48917804G>A	uc002isv.3	+	2	1849	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	WFIKKN2_uc010dbu.2_Silent_p.A292A	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	385						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGCTGGCCGCGTGCAGCCTGC	0.647												
MKS1	54903	broad.mit.edu	37	17	56290388	56290388	+	Silent	SNP	G	G	A	rs117617624	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:56290388G>A	uc002ivr.1	-	8	888	c.813C>T	c.(811-813)CAC>CAT	p.H271H	MKS1_uc010wnq.1_Silent_p.H68H|MKS1_uc002ivs.1_Silent_p.H271H	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	271					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						CCGGCTGTGCGTGGGGGGAAA	0.532												
TEX14	56155	broad.mit.edu	37	17	56676886	56676886	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:56676886G>A	uc010dcz.1	-	14	1956	c.1838C>T	c.(1837-1839)GCC>GTC	p.A613V	TEX14_uc002iwr.1_Missense_Mutation_p.A607V|TEX14_uc002iws.1_Missense_Mutation_p.A607V|TEX14_uc010dda.1_Missense_Mutation_p.A387V	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	613						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCTGCTGGCCTCTTCTGC	0.532												
PPM1E	22843	broad.mit.edu	37	17	57049544	57049544	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:57049544C>T	uc002iwx.2	+	5	1151	c.1024C>T	c.(1024-1026)CTA>TTA	p.L342L	PPM1E_uc010ddd.2_Silent_p.L105L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	351	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGCAACATGCTACATGTGGC	0.433												
HEATR6	63897	broad.mit.edu	37	17	58134441	58134441	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:58134441C>T	uc002iyk.1	-	12	2064	c.2047G>A	c.(2047-2049)GAA>AAA	p.E683K	HEATR6_uc010ddk.1_Missense_Mutation_p.E222K|HEATR6_uc010wos.1_Missense_Mutation_p.E515K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	683							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGGGATGGTTCGTAGGTGCTT	0.388												
HEATR6	63897	broad.mit.edu	37	17	58150607	58150607	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:58150607A>C	uc002iyk.1	-	4	519	c.502T>G	c.(502-504)TTA>GTA	p.L168V	HEATR6_uc010wos.1_5'UTR	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	168	HEAT 1.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACTTCATTAAGAGTCCGGTG	0.418												
MRC2	9902	broad.mit.edu	37	17	60743868	60743868	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:60743868C>T	uc002jad.2	+	4	1149	c.747C>T	c.(745-747)TAC>TAT	p.Y249Y	MRC2_uc002jac.2_Silent_p.Y249Y	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	249	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAGCTGCTACCAGTTTAACT	0.627												
STRADA	92335	broad.mit.edu	37	17	61804044	61804044	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61804044C>T	uc002jbm.2	-	3	207	c.48G>A	c.(46-48)TCG>TCA	p.S16S	STRADA_uc002jbn.2_5'UTR|STRADA_uc002jbo.2_Intron|STRADA_uc002jbp.2_Intron|STRADA_uc002jbq.2_5'UTR|STRADA_uc010wpq.1_Silent_p.S16S|STRADA_uc010wpr.1_Intron|STRADA_uc010ddw.2_Intron|STRADA_uc002jbr.2_5'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	16					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						TGAACTTTTCCGAGACCCACC	0.388												
PSMC5	5705	broad.mit.edu	37	17	61907507	61907507	+	Silent	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61907507T>A	uc002jcb.2	+	5	320	c.279T>A	c.(277-279)GGT>GGA	p.G93G	FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Silent_p.G70G|PSMC5_uc010ddz.2_Silent_p.G14G|PSMC5_uc002jcc.2_Silent_p.G85G|PSMC5_uc002jcd.2_Silent_p.G85G	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						ATCCTGAAGGTAAATTTGTTG	0.458												
GH2	2689	broad.mit.edu	37	17	61958243	61958243	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61958243G>A	uc002jco.1	-	4	407	c.345C>T	c.(343-345)CCC>CCT	p.P115P	GH2_uc002jcj.2_Silent_p.P115P|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.P115P|GH2_uc002jcm.1_Silent_p.P115P|GH2_uc002jcn.1_Silent_p.P100P	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	115						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GGAGCTGCACGGGCTCCAGCC	0.627												
TEX2	55852	broad.mit.edu	37	17	62232285	62232285	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:62232285T>C	uc002jec.2	-	9	3020	c.2847A>G	c.(2845-2847)GAA>GAG	p.E949E	TEX2_uc002jed.2_Silent_p.E956E|TEX2_uc002jee.2_Silent_p.E949E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	949					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGCTGGAGGATTCCTCATCGC	0.622												
GNA13	10672	broad.mit.edu	37	17	63052529	63052529	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:63052529C>G	uc002jfc.2	-	1	392	c.183G>C	c.(181-183)AAG>AAC	p.K61N	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	61	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GGAAGGTGGACTTGCCGCTCT	0.592												
CACNG1	786	broad.mit.edu	37	17	65052301	65052301	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:65052301G>A	uc002jfu.2	+	4	654	c.583G>A	c.(583-585)GGC>AGC	p.G195S		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	195	Helical; (Potential).				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CCTCTTTCTCGGCGGTCTCGC	0.612												
HELZ	9931	broad.mit.edu	37	17	65074496	65074496	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:65074496G>A	uc010wqk.1	-	33	5891	c.5704C>T	c.(5704-5706)CGG>TGG	p.R1902W	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1901W	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGAGGGGCCCGCAGAGCGCTG	0.632												
SLC39A11	201266	broad.mit.edu	37	17	71084796	71084796	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71084796C>T	uc002jjb.2	-	2	223	c.108G>A	c.(106-108)CAG>CAA	p.Q36Q	SLC39A11_uc002jja.2_Silent_p.Q36Q|SLC39A11_uc002jjc.1_Silent_p.Q36Q	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	36					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						GGCAACTCACCTGTCCACTAG	0.567												
SDK2	54549	broad.mit.edu	37	17	71391336	71391336	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71391336C>T	uc010dfm.2	-	25	3550	c.3550G>A	c.(3550-3552)GGG>AGG	p.G1184R	SDK2_uc002jjt.3_Missense_Mutation_p.G343R|SDK2_uc010dfn.2_Missense_Mutation_p.G863R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1184	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion	integral to membrane				ovary(2)	2						CTCCAGGGCCCGCTCCCGATG	0.667												
SDK2	54549	broad.mit.edu	37	17	71394314	71394314	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71394314G>A	uc010dfm.2	-	24	3214	c.3214C>T	c.(3214-3216)CGC>TGC	p.R1072C	SDK2_uc002jjt.3_Missense_Mutation_p.R231C|SDK2_uc010dfn.2_Missense_Mutation_p.R751C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1072	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TTCACCTGGCGCATGCGGAAG	0.622												
MRPL38	64978	broad.mit.edu	37	17	73895602	73895602	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:73895602T>C	uc010wso.1	-	7	1089	c.864A>G	c.(862-864)TCA>TCG	p.S288S	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	288						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTACCAGGGTGAGGGGCGTG	0.607												
EVPL	2125	broad.mit.edu	37	17	74018100	74018100	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74018100A>C	uc002jqi.2	-	7	883	c.655T>G	c.(655-657)TCG>GCG	p.S219A	EVPL_uc010wss.1_Missense_Mutation_p.S219A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	219	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGCGCCACGACGCCGCCTTC	0.706												
QRICH2	84074	broad.mit.edu	37	17	74277016	74277016	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74277016G>A	uc002jrd.1	-	9	3964	c.3784C>T	c.(3784-3786)CGT>TGT	p.R1262C	QRICH2_uc010wsz.1_Missense_Mutation_p.R1188C|QRICH2_uc010dgw.1_Missense_Mutation_p.R106C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1262							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CTCTGCACACGGCCCAGCAGC	0.617												
UBE2O	63893	broad.mit.edu	37	17	74395734	74395734	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74395734G>A	uc002jrm.3	-	9	1489	c.1424C>T	c.(1423-1425)TCG>TTG	p.S475L	UBE2O_uc002jrn.3_Missense_Mutation_p.S475L|UBE2O_uc002jrl.3_Missense_Mutation_p.S78L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	475							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTGCTCTGCCGAGTGCAGCCT	0.622												
TNRC6C	57690	broad.mit.edu	37	17	76046806	76046806	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:76046806G>T	uc002jud.2	+	4	2263	c.1663G>T	c.(1663-1665)GGC>TGC	p.G555C	TNRC6C_uc002juf.2_Missense_Mutation_p.G555C|TNRC6C_uc002jue.2_Missense_Mutation_p.G555C	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	555	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAAGAGTGGCCATGCTTG	0.577												
AFMID	125061	broad.mit.edu	37	17	76202066	76202066	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:76202066C>T	uc002jva.3	+	10	835	c.820C>T	c.(820-822)CTC>TTC	p.L274F	AFMID_uc002jvb.3_Silent_p.S81S|AFMID_uc002juz.3_Missense_Mutation_p.L279F	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	274						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			ATTTGAAGAGCTCCACGATGT	0.557												
C1QTNF1	114897	broad.mit.edu	37	17	77043779	77043779	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77043779G>A	uc002jwp.2	+	4	795	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	C1QTNF1_uc002jwq.2_Missense_Mutation_p.R70Q|C1QTNF1_uc002jwr.3_Missense_Mutation_p.R162Q|C1QTNF1_uc002jws.2_Missense_Mutation_p.R152Q|C1QTNF1_uc002jwt.2_Missense_Mutation_p.R250Q	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	152	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TCGGTGGGCCGGAAGAAGCCC	0.617												
ENPP7	339221	broad.mit.edu	37	17	77709291	77709291	+	Silent	SNP	C	C	T	rs149462169	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77709291C>T	uc002jxa.2	+	3	869	c.849C>T	c.(847-849)AAC>AAT	p.N283N		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	283					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGACCAAACGGGATGCTGC	0.587												
CBX4	8535	broad.mit.edu	37	17	77807930	77807930	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77807930G>A	uc002jxe.2	-	5	1674	c.1511C>T	c.(1510-1512)GCG>GTG	p.A504V		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			cgccgccaccgccaccgccgc	0.537												
RPTOR	57521	broad.mit.edu	37	17	78933961	78933961	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:78933961C>T	uc002jyt.1	+	30	4366	c.3561C>T	c.(3559-3561)GAC>GAT	p.D1187D	RPTOR_uc010wug.1_Silent_p.D1029D|RPTOR_uc002jyu.1_Silent_p.D80D	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	1187	WD 4.				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GCCTCGGTGACGGCTCCATCC	0.612												
ENOSF1	55556	broad.mit.edu	37	18	674307	674307	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:674307A>G	uc002kku.3	-	16	1405	c.1330T>C	c.(1330-1332)TAA>CAA	p.*444Q	ENOSF1_uc002kkt.3_Nonstop_Mutation_p.*362Q|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonstop_Mutation_p.*451Q|ENOSF1_uc002kkv.3_Nonstop_Mutation_p.*431Q|ENOSF1_uc002kkw.3_Nonstop_Mutation_p.*263Q|ENOSF1_uc002kkx.3_Nonstop_Mutation_p.*368Q	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	444					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						CTGAGCACTTAATTTTCTTGA	0.378												
EPB41L3	23136	broad.mit.edu	37	18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	rs143141379		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:5397388G>A	uc002kmt.1	-	18	2596	c.2510C>T	c.(2509-2511)ACG>ATG	p.T837M	EPB41L3_uc010wzh.1_Missense_Mutation_p.T668M|EPB41L3_uc002kmu.1_Missense_Mutation_p.T615M|EPB41L3_uc010dkq.1_Missense_Mutation_p.T506M|EPB41L3_uc002kms.1_Missense_Mutation_p.T72M|EPB41L3_uc010wze.1_Missense_Mutation_p.T142M|EPB41L3_uc010wzf.1_Missense_Mutation_p.T134M|EPB41L3_uc010wzg.1_Missense_Mutation_p.T109M|EPB41L3_uc010dkr.2_Missense_Mutation_p.T229M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	837	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGTGGGTTCCGTCTCTATTCC	0.542												
KIAA0802	23255	broad.mit.edu	37	18	8784560	8784560	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:8784560C>A	uc002knr.2	+	6	1592	c.1450C>A	c.(1450-1452)CTG>ATG	p.L484M	KIAA0802_uc002knq.2_Missense_Mutation_p.L484M|KIAA0802_uc010dkw.1_Missense_Mutation_p.L322M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	835											0						TGATGCGGGGCTGCGGGGTGG	0.672												
SNRPD1	6632	broad.mit.edu	37	18	19203788	19203788	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:19203788G>A	uc002ktj.1	+	3	302	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	57					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						AGCTGGAAACGCTGAGTATTC	0.388												
OSBPL1A	114876	broad.mit.edu	37	18	21759789	21759789	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:21759789G>A	uc002kve.2	-	20	1997	c.1823C>T	c.(1822-1824)GCG>GTG	p.A608V	OSBPL1A_uc002kvd.2_Missense_Mutation_p.A95V|OSBPL1A_uc010xbc.1_Missense_Mutation_p.A226V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	608					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TACAGCAAACGCAGCTACACA	0.463												
DSC1	1823	broad.mit.edu	37	18	28710616	28710616	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:28710616G>A	uc002kwn.2	-	16	2808	c.2546C>T	c.(2545-2547)TCG>TTG	p.S849L	DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	849	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATAGTTATACGAACAAACGTA	0.418												
ZBTB7C	201501	broad.mit.edu	37	18	45555955	45555955	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:45555955G>A	uc002lda.2	-	2	1552	c.1536C>T	c.(1534-1536)GGC>GGT	p.G512G	ZBTB7C_uc002ldb.2_Silent_p.G512G|ZBTB7C_uc010dnu.2_Silent_p.G521G|ZBTB7C_uc010dnv.2_Silent_p.G534G|ZBTB7C_uc010dnw.2_Silent_p.G512G	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	512						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CGCCCACCTCGCCCAGCGCAG	0.662												
WDR7	23335	broad.mit.edu	37	18	54591218	54591218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:54591218C>T	uc002lgk.1	+	22	3803	c.3592C>T	c.(3592-3594)CGA>TGA	p.R1198*	WDR7_uc002lgl.1_Nonsense_Mutation_p.R1165*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1198										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CAGCACTATCCGAAGAACAGC	0.493												
ATP8B1	5205	broad.mit.edu	37	18	55315862	55315862	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:55315862C>T	uc002lgw.2	-	27	3614	c.3614G>A	c.(3613-3615)CGG>CAG	p.R1205Q	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1205	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R1205R(1)		breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GGCCGAGCGCCGCGTTGACAC	0.672									Byler_disease			
NEDD4L	23327	broad.mit.edu	37	18	55996250	55996250	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:55996250A>T	uc002lgy.2	+	10	978	c.704A>T	c.(703-705)AAT>ATT	p.N235I	NEDD4L_uc002lgz.2_Missense_Mutation_p.N235I|NEDD4L_uc002lgx.2_Missense_Mutation_p.N235I|NEDD4L_uc010xee.1_Missense_Mutation_p.N114I|NEDD4L_uc002lhc.2_Missense_Mutation_p.N227I|NEDD4L_uc002lhd.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhb.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhe.2_Missense_Mutation_p.N227I|NEDD4L_uc002lhf.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhg.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhh.2_Missense_Mutation_p.N114I|NEDD4L_uc010dpm.1_Missense_Mutation_p.N86I	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	235					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						GAGTCGGACAATAACATCAGA	0.587												
ALPK2	115701	broad.mit.edu	37	18	56171214	56171214	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:56171214G>A	uc002lhj.3	-	11	6410	c.6196C>T	c.(6196-6198)CAC>TAC	p.H2066Y		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2066	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TACACCCAGTGCTGGAAGGTG	0.498												
CDH20	28316	broad.mit.edu	37	18	59221536	59221536	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:59221536G>A	uc010dps.1	+	11	2026	c.2014G>A	c.(2014-2016)GAG>AAG	p.E672K	CDH20_uc002lif.2_Missense_Mutation_p.E666K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	672	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GGGCGGCGGCGAGGAGGACAC	0.647												
DOK6	220164	broad.mit.edu	37	18	67508532	67508532	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:67508532C>T	uc002lkl.2	+	8	1099	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	303							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTCCCAGCTACGCCCCAGAAC	0.527												
CYB5A	1528	broad.mit.edu	37	18	71959089	71959089	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:71959089C>T	uc002lli.2	-	1	133	c.22G>A	c.(22-24)GCC>ACC	p.A8T	CYB5A_uc002llh.2_Missense_Mutation_p.A8T	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	8					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	TACTTCACGGCCTCGTCCGAC	0.602											OREG0025052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TSHZ1	10194	broad.mit.edu	37	18	72997590	72997590	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:72997590G>A	uc002lly.2	+	2	656	c.93G>A	c.(91-93)TCG>TCA	p.S31S		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	76	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCTACGGGTCGCCCTTCAGTG	0.582												
SALL3	27164	broad.mit.edu	37	18	76753554	76753554	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:76753554C>T	uc002lmt.2	+	2	1563	c.1563C>T	c.(1561-1563)ACC>ACT	p.T521T	SALL3_uc010dra.2_Silent_p.T128T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCTGCCCACCGTGCCCACGT	0.721												
NFATC1	4772	broad.mit.edu	37	18	77193582	77193582	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:77193582G>A	uc010xfg.1	+	3	1683	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	NFATC1_uc002lnc.1_Silent_p.P410P|NFATC1_uc010xff.1_Silent_p.P410P|NFATC1_uc002lnd.2_Silent_p.P410P|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Silent_p.P410P|NFATC1_uc010xfi.1_Silent_p.P397P|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Silent_p.P397P|NFATC1_uc002lng.2_Silent_p.P397P|NFATC1_uc010xfk.1_Silent_p.P397P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	410	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTTCCAGCCCGACCCTGCCCG	0.667												
POLRMT	5442	broad.mit.edu	37	19	621151	621151	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:621151C>T	uc002lpf.1	-	10	2603	c.2547G>A	c.(2545-2547)ACG>ACA	p.T849T		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	849	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCAACCCCGTGAGATTGA	0.682												
ELANE	1991	broad.mit.edu	37	19	855593	855593	+	Silent	SNP	C	C	T	rs144441259	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:855593C>T	uc002lqb.2	+	4	434	c.396C>T	c.(394-396)AAC>AAT	p.N132N		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	132	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAACGCCAACGTGCAGGTGG	0.697									Kostmann_syndrome			
HMHA1	23526	broad.mit.edu	37	19	1073980	1073980	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1073980G>T	uc002lqz.1	+	6	988	c.757G>T	c.(757-759)GGC>TGC	p.G253C	HMHA1_uc010xgd.1_Missense_Mutation_p.G269C|HMHA1_uc010xge.1_Missense_Mutation_p.G93C|HMHA1_uc002lra.1_Missense_Mutation_p.G93C|HMHA1_uc002lrb.1_Missense_Mutation_p.G136C	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	253					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCAGTGAGGGCACGCCTCC	0.687												
APC2	10297	broad.mit.edu	37	19	1466991	1466991	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1466991C>A	uc002lsr.1	+	15	3899	c.3691C>A	c.(3691-3693)CTG>ATG	p.L1231M	APC2_uc002lss.1_Missense_Mutation_p.L813M|APC2_uc002lst.1_Missense_Mutation_p.L1231M|APC2_uc002lsu.1_Missense_Mutation_p.L1230M|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1231	Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTTCAGCCTGCAGTGGGA	0.706												
PCSK4	54760	broad.mit.edu	37	19	1483747	1483747	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1483747G>A	uc002ltb.1	-	11	1355	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PCSK4_uc002lsz.2_Translation_Start_Site|PCSK4_uc002lta.2_Silent_p.Y243Y	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	431					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGTATCCGTAGT	0.557												
MEX3D	399664	broad.mit.edu	37	19	1556587	1556587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1556587C>T	uc010dsn.2	-	2	931	c.931G>A	c.(931-933)GGG>AGG	p.G311R		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	311	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCGCGCCCGGGCGTCACG	0.711												
BTBD2	55643	broad.mit.edu	37	19	1993114	1993114	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1993114C>A	uc002lup.1	-	3	589	c.589G>T	c.(589-591)GCC>TCC	p.A197S	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	197						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTTCTTGGCGGTGTATAGC	0.627												
ZNF554	115196	broad.mit.edu	37	19	2833974	2833974	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:2833974C>T	uc002lwm.2	+	5	939	c.741C>T	c.(739-741)AGC>AGT	p.S247S	ZNF554_uc002lwl.2_Silent_p.S196S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGTGGCAGCGAGTTAGATA	0.458												
ZNF77	58492	broad.mit.edu	37	19	2934023	2934023	+	Nonsense_Mutation	SNP	G	G	A	rs61740279	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:2934023G>A	uc002lws.3	-	4	1233	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	368	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGTGCTCGCAGAGAGGAG	0.502												
TLE2	7089	broad.mit.edu	37	19	3006610	3006610	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:3006610C>T	uc002lww.2	-	15	1571	c.1308G>A	c.(1306-1308)TCG>TCA	p.S436S	TLE2_uc010xhb.1_Silent_p.S103S|TLE2_uc010dth.2_Silent_p.S437S|TLE2_uc010xhc.1_Silent_p.S314S|TLE2_uc010dti.2_Silent_p.S450S|TLE2_uc010xhd.1_Silent_p.S344S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	436					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTGCATCCGAGGGGAAGG	0.701												
FZR1	51343	broad.mit.edu	37	19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:3527008G>A	uc010dtk.2	+	5	452	c.418G>A	c.(418-420)GAT>AAT	p.D140N	FZR1_uc002lxt.2_Missense_Mutation_p.D140N|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	140					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662												
CHAF1A	10036	broad.mit.edu	37	19	4433532	4433532	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:4433532G>A	uc002mal.2	+	13	2769	c.2669G>A	c.(2668-2670)GGC>GAC	p.G890D		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	890	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCACGACGGCCAGGTGAGG	0.483								Chromatin_Structure				
DPP9	91039	broad.mit.edu	37	19	4682823	4682823	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:4682823C>T	uc002mba.2	-	20	2617	c.2359G>A	c.(2359-2361)GTC>ATC	p.V787I		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	758					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCATCCAGACGGTGACCGGG	0.627												
PTPRS	5802	broad.mit.edu	37	19	5258089	5258089	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:5258089C>T	uc002mbv.2	-	8	879	c.645G>A	c.(643-645)GAG>GAA	p.E215E	PTPRS_uc002mbu.1_Silent_p.E206E|PTPRS_uc010xin.1_Silent_p.E206E|PTPRS_uc002mbw.2_Silent_p.E206E|PTPRS_uc002mbx.2_Silent_p.E206E|PTPRS_uc002mby.2_Silent_p.E206E	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	215	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGCCACACACTCATATTTGC	0.607												
ACSBG2	81616	broad.mit.edu	37	19	6187702	6187702	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						AGGCATCCACCGTGACTGAGA	0.552												
C3	718	broad.mit.edu	37	19	6711033	6711033	+	Missense_Mutation	SNP	C	C	T	rs149692538		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:6711033C>T	uc002mfm.2	-	12	1506	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	482					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCTCGTGGGCGCGGTCCATT	0.607												
XAB2	56949	broad.mit.edu	37	19	7685556	7685556	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:7685556C>A	uc002mgx.2	-	15	1998	c.1972_splice	c.e15-1	p.V658_splice		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2						transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CCGACAGCACCTGGACACCGG	0.657								Direct_reversal_of_damage|NER				
LRRC8E	80131	broad.mit.edu	37	19	7964581	7964581	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:7964581C>T	uc002mir.2	+	3	1275	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	392						integral to membrane				lung(1)|pancreas(1)	2						CAGCGAAAGCCGTCTAAAGCA	0.592												
FBN3	84467	broad.mit.edu	37	19	8201150	8201150	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8201150G>A	uc002mjf.2	-	11	1410	c.1389C>T	c.(1387-1389)TGC>TGT	p.C463C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	463	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGATGTTGACGCAGTCACCGT	0.662												
MARCH2	51257	broad.mit.edu	37	19	8491553	8491553	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8491553G>A	uc002mjv.2	+	4	678	c.237G>A	c.(235-237)CCG>CCA	p.P79P	MARCH2_uc002mjw.2_Silent_p.P79P|MARCH2_uc002mjx.2_Silent_p.P79P	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	79	RING-CH-type.				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TGCTGTCCCCGTGTGGCTGCA	0.582												
HNRNPM	4670	broad.mit.edu	37	19	8550766	8550766	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8550766G>A	uc010dwe.2	+	14	1534	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	HNRNPM_uc010xke.1_Missense_Mutation_p.R431H|HNRNPM_uc010dwd.2_Missense_Mutation_p.R446H|HNRNPM_uc002mka.2_Missense_Mutation_p.R350H|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	485	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|12.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						GGCGTGGAGCGCATGGGTGCC	0.677												
ADAMTS10	81794	broad.mit.edu	37	19	8670161	8670161	+	Silent	SNP	C	C	T	rs150237441	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8670161C>T	uc002mkj.1	-	4	445	c.171G>A	c.(169-171)TCG>TCA	p.S57S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GAGGAGGTGGCGAGAAGGCCA	0.662												
MUC16	94025	broad.mit.edu	37	19	8997482	8997482	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8997482C>T	uc002mkp.2	-	59	41144	c.40940G>A	c.(40939-40941)CGG>CAG	p.R13647Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R464Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCCTCATACCGCAGGTTGGT	0.557												
OR7G1	125962	broad.mit.edu	37	19	9225634	9225634	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:9225634C>T	uc002mks.1	-	1	806	c.806G>A	c.(805-807)CGA>CAA	p.R269Q		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGCAGTAATTCGGGAAGACTC	0.458												
ZNF560	147741	broad.mit.edu	37	19	9578489	9578489	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:9578489A>G	uc002mlp.1	-	10	1344	c.1134T>C	c.(1132-1134)TGT>TGC	p.C378C	ZNF560_uc010dwr.1_Silent_p.C272C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	378	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						CACAGTGCTTACATTTATAAG	0.413												
COL5A3	50509	broad.mit.edu	37	19	10097273	10097273	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10097273C>T	uc002mmq.1	-	29	2286	c.2200G>A	c.(2200-2202)GGC>AGC	p.G734S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	734	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCTGGGAAGCCGTCCTCTCCC	0.617												
COL5A3	50509	broad.mit.edu	37	19	10100194	10100194	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10100194G>A	uc002mmq.1	-	25	2083	c.1997C>T	c.(1996-1998)CCC>CTC	p.P666L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	666	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GTTTCCAGGGGGACCCTGAAA	0.577												
KRI1	65095	broad.mit.edu	37	19	10668280	10668280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10668280C>T	uc002moy.1	-	16	1592	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	KRI1_uc002mow.1_Missense_Mutation_p.R147H|KRI1_uc002mox.1_Missense_Mutation_p.R524H	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	528										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTACTTGAAGCGACAGGGCAG	0.617												
CARM1	10498	broad.mit.edu	37	19	11024578	11024578	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11024578C>T	uc002mpz.2	+	6	821	c.695C>T	c.(694-696)ACG>ATG	p.T232M	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.T15M	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	232					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						AACAACCTGACGGACCGCATC	0.617												
SMARCA4	6597	broad.mit.edu	37	19	11135020	11135020	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11135020T>G	uc002mqf.3	+	21	3271	c.2987T>G	c.(2986-2988)ATC>AGC	p.I996S	SMARCA4_uc010dxp.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxo.2_Missense_Mutation_p.I996S|SMARCA4_uc002mqg.1_Missense_Mutation_p.I996S|SMARCA4_uc010dxq.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxr.2_Missense_Mutation_p.I996S|SMARCA4_uc002mqj.3_Missense_Mutation_p.I996S|SMARCA4_uc010dxs.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxt.1_Missense_Mutation_p.I216S|SMARCA4_uc002mqh.3_Missense_Mutation_p.I119S|SMARCA4_uc002mqi.1_Missense_Mutation_p.I199S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	996					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGTACGTCATCAAGTGCGAC	0.627			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11241983	11241983	+	Silent	SNP	C	C	T	rs139757711		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11241983C>T	uc002mqk.3	+	18	2742	c.2574C>T	c.(2572-2574)GAC>GAT	p.D858D	LDLR_uc010xlk.1_Silent_p.D856D|LDLR_uc010xll.1_Silent_p.D817D|LDLR_uc010xlm.1_Silent_p.D711D|LDLR_uc010xln.1_Silent_p.D680D|LDLR_uc010xlo.1_Silent_p.D690D|LDLR_uc010dxu.2_Missense_Mutation_p.T25M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	858	Required for MYLIP-triggered down- regulation of LDLR.|Cytoplasmic (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGAGGATGACGTGGCGTGAA	0.527											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DOCK6	57572	broad.mit.edu	37	19	11356356	11356356	+	Silent	SNP	C	C	T	rs79202547	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11356356C>T	uc002mqs.3	-	9	947	c.906G>A	c.(904-906)TCG>TCA	p.S302S		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	302					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCATGGAGTCCGAGTTCAGGT	0.592												
ZNF700	90592	broad.mit.edu	37	19	12060510	12060510	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12060510T>C	uc002msu.2	+	4	1797	c.1671T>C	c.(1669-1671)ACT>ACC	p.T557T	ZNF700_uc010xme.1_Silent_p.T575T|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	557	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGAAAGGACTCACACTGGAG	0.438												
ZNF442	79973	broad.mit.edu	37	19	12461306	12461306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12461306G>A	uc002mtr.1	-	6	1704	c.1093C>T	c.(1093-1095)CAA>TAA	p.Q365*	ZNF442_uc010xmk.1_Nonsense_Mutation_p.Q296*	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	365	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TCATGACTTTGCAGTGAACTA	0.413												
HOOK2	29911	broad.mit.edu	37	19	12883473	12883473	+	Missense_Mutation	SNP	G	G	A	rs112046714		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12883473G>A	uc002muy.2	-	6	581	c.410C>T	c.(409-411)ACG>ATG	p.T137M	HOOK2_uc002muz.2_Missense_Mutation_p.T137M	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	137	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						TTCTTCCAGCGTCATGATTCT	0.582												
CALR	811	broad.mit.edu	37	19	13051174	13051174	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:13051174C>T	uc002mvu.2	+	5	690	c.610C>T	c.(610-612)CCA>TCA	p.P204S		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	204	P-domain.|4 X approximate repeats.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTTCCTGCCACCCAAGAA	0.532												
LPHN1	22859	broad.mit.edu	37	19	14269310	14269310	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:14269310G>A	uc010xnn.1	-	13	2515	c.2219C>T	c.(2218-2220)ACG>ATG	p.T740M	LPHN1_uc010xno.1_Missense_Mutation_p.T735M|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	740	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGCATTCTCCGTGGACAGGAA	0.592												
SLC1A6	6511	broad.mit.edu	37	19	15065082	15065082	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15065082C>T	uc002naa.1	-	7	1237	c.1229G>A	c.(1228-1230)CGC>CAC	p.R410H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R332H|SLC1A6_uc010xod.1_Missense_Mutation_p.R346H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	410					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCTGGTGATGCGGCGGTCCAC	0.647												
SYDE1	85360	broad.mit.edu	37	19	15224566	15224566	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15224566G>A	uc002nah.1	+	8	2031	c.2000G>A	c.(1999-2001)CGG>CAG	p.R667Q	SYDE1_uc002nai.1_Missense_Mutation_p.R600Q|SYDE1_uc002naj.1_Missense_Mutation_p.R324Q	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	667					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CCCTGTGGGCGGGATTTCCTG	0.697												
CPAMD8	27151	broad.mit.edu	37	19	17013616	17013616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17013616C>T	uc002nfb.2	-	35	4701	c.4669G>A	c.(4669-4671)GTA>ATA	p.V1557I	CPAMD8_uc002nfd.1_Missense_Mutation_p.V22I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1510						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGGAGGCTTACGAGCAGCTGG	0.652												
CPAMD8	27151	broad.mit.edu	37	19	17091392	17091392	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17091392C>T	uc002nfb.2	-	14	1673	c.1641G>A	c.(1639-1641)CAG>CAA	p.Q547Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	500						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTGGGCAGGCTGCTGGCCCG	0.577												
B3GNT3	10331	broad.mit.edu	37	19	17922436	17922436	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17922436C>T	uc002nhk.1	+	3	709	c.624C>T	c.(622-624)AAC>AAT	p.N208N	B3GNT3_uc002nhl.1_Silent_p.N208N|B3GNT3_uc010ebd.1_Silent_p.N208N|B3GNT3_uc010ebe.1_Silent_p.N208N	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	208	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						TCGTGCTCAACGGGGATGATG	0.582												
KIAA1683	80726	broad.mit.edu	37	19	18376825	18376825	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:18376825G>A	uc002nin.2	-	3	1741	c.1525C>T	c.(1525-1527)CGC>TGC	p.R509C	KIAA1683_uc010ebn.2_Missense_Mutation_p.R509C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R463C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	509						mitochondrion				ovary(2)	2						GCCACCGAGCGTAACTGGGCT	0.597												
GDF1	2657	broad.mit.edu	37	19	19004284	19004284	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:19004284G>A	uc002nki.1	-	2	422	c.350C>T	c.(349-351)GCC>GTC	p.A117V	LASS1_uc002nkj.2_Missense_Mutation_p.A117V|LASS1_uc010ebx.2_Missense_Mutation_p.A19V	NM_021267	NP_067090	P27539	GDF1_HUMAN	LAG1 homolog, ceramide synthase 1 isoform 1	Error:Variant_position_missing_in_P27539_after_alignment					growth	extracellular space	cytokine activity|growth factor activity				0						CAGCAGGTAGGCACTGTAGCT	0.612												
COPE	11316	broad.mit.edu	37	19	19010503	19010503	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:19010503G>A	uc002nkk.2	-	10	954	c.912C>T	c.(910-912)TAC>TAT	p.Y304Y	LASS1_uc010ebx.2_5'Flank|COPE_uc002nkl.2_Silent_p.Y253Y|COPE_uc002nkm.2_Silent_p.Y252Y|COPE_uc002nkn.2_Silent_p.Y327Y	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	304					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity				0						CGCTGGGAGCGTACTGTAGCA	0.637												
ZNF85	7639	broad.mit.edu	37	19	21132748	21132748	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:21132748T>C	uc002npg.3	+	4	1555	c.1428T>C	c.(1426-1428)CAT>CAC	p.H476H	ZNF85_uc010ecn.2_Silent_p.H411H|ZNF85_uc010eco.2_Silent_p.H424H|ZNF85_uc002npi.2_Silent_p.H417H	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	476	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						AGAAAAGTCATACAGAAGAGA	0.348												
ZNF676	163223	broad.mit.edu	37	19	22363776	22363776	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:22363776G>A	uc002nqs.1	-	3	1061	c.743C>T	c.(742-744)ACT>ATT	p.T248I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTCTCCAGTATGAATTAT	0.378												
SLC7A9	11136	broad.mit.edu	37	19	33353056	33353056	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33353056C>T	uc002ntv.3	-	6	789	c.672G>A	c.(670-672)GCG>GCA	p.A224A	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.A224A|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	224	Helical; (Potential).		A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATTGTAAAACGCCAGGCTGA	0.532												
SLC7A9	11136	broad.mit.edu	37	19	33353080	33353080	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33353080C>T	uc002ntv.3	-	6	765	c.648G>A	c.(646-648)CTG>CTA	p.L216L	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.L216L|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	216	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCACAGACAGCTGGGCGC	0.532												
WDR88	126248	broad.mit.edu	37	19	33623249	33623249	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33623249C>T	uc002nui.2	+	1	252	c.174C>T	c.(172-174)CTC>CTT	p.L58L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	58										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGGCCACCCTCGACCCCCTGG	0.642												
MAG	4099	broad.mit.edu	37	19	35786581	35786581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:35786581G>A	uc002nyy.1	+	4	261	c.112G>A	c.(112-114)GTC>ATC	p.V38I	MAG_uc002nyx.1_Missense_Mutation_p.V38I|MAG_uc010eds.1_Missense_Mutation_p.V13I|MAG_uc002nyz.1_Missense_Mutation_p.V38I	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	38	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCACGTGCGTCTCCATCCC	0.647												
ATP4A	495	broad.mit.edu	37	19	36046612	36046612	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36046612G>A	uc002oal.1	-	13	2001	c.1972C>T	c.(1972-1974)CGC>TGC	p.R658C	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	658	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACACGGAGGCGGGCAGCGATG	0.632												
KIRREL2	84063	broad.mit.edu	37	19	36351526	36351526	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36351526C>T	uc002ocb.3	+	7	1097	c.885C>T	c.(883-885)AAC>AAT	p.N295N	KIRREL2_uc002obz.3_Silent_p.N295N|KIRREL2_uc002oca.3_Silent_p.N245N|KIRREL2_uc002occ.3_Silent_p.N242N|KIRREL2_uc002ocd.3_Silent_p.N292N	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	295	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGTCAGCAACGCCGTGGGTA	0.667												
ZNF829	374899	broad.mit.edu	37	19	37382942	37382942	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:37382942A>G	uc002ofa.1	-	6	1113	c.751T>C	c.(751-753)TAT>CAT	p.Y251H	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	251	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGAGCAATACTTAAAGGCT	0.358												
ZFP30	22835	broad.mit.edu	37	19	38126828	38126828	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38126828T>C	uc002ogv.1	-	6	1130	c.614A>G	c.(613-615)CAG>CGG	p.Q205R	ZFP30_uc002ogw.1_Missense_Mutation_p.Q205R|ZFP30_uc002ogx.1_Missense_Mutation_p.Q205R|ZFP30_uc010xtt.1_Missense_Mutation_p.Q204R	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAATTCTCTGATGTCGACT	0.383												
ZNF607	84775	broad.mit.edu	37	19	38190427	38190427	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38190427C>T	uc002ohc.1	-	5	1201	c.605G>A	c.(604-606)TGT>TAT	p.C202Y	ZNF607_uc002ohb.1_Missense_Mutation_p.C201Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	202	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGCTTCCCCACACTCTTTACA	0.413												
RYR1	6261	broad.mit.edu	37	19	38991585	38991585	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38991585C>T	uc002oit.2	+	47	7699	c.7569C>T	c.(7567-7569)GAC>GAT	p.D2523D	RYR1_uc002oiu.2_Silent_p.D2523D|RYR1_uc002oiv.1_Translation_Start_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2523	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGTGCTGGACGTGGGGTTCC	0.637												
SAMD4B	55095	broad.mit.edu	37	19	39847556	39847556	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:39847556G>A	uc002olb.2	+	5	1058	c.23G>A	c.(22-24)GGC>GAC	p.G8D	SAMD4B_uc002ola.2_Missense_Mutation_p.G8D	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	8							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GACCAGGTGGGCATCCTCGCT	0.672												
AKT2	208	broad.mit.edu	37	19	40747850	40747850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40747850C>T	uc002onf.2	-	6	830	c.568G>A	c.(568-570)GCC>ACC	p.A190T	AKT2_uc010egs.2_Missense_Mutation_p.A190T|AKT2_uc010egt.2_Missense_Mutation_p.A128T|AKT2_uc010xvj.1_Missense_Mutation_p.A128T|AKT2_uc010egu.1_Missense_Mutation_p.A128T|AKT2_uc010xvk.1_Missense_Mutation_p.A190T|AKT2_uc002one.2_Missense_Mutation_p.A86T	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	190	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			CGCACCTTGGCAATGATGACT	0.622			A		ovarian|pancreatic 							
HIPK4	147746	broad.mit.edu	37	19	40895647	40895647	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40895647C>T	uc002onp.2	-	1	448	c.163G>A	c.(163-165)GAG>AAG	p.E55K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	55	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCTTCAGCTCGTTCTTGATG	0.592												
CYP2A7	1549	broad.mit.edu	37	19	41386388	41386388	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:41386388C>T	uc002opm.2	-	3	1031	c.489G>A	c.(487-489)ACG>ACA	p.T163T	CYP2A7_uc002opo.2_Silent_p.T163T|CYP2A7_uc002opn.2_Silent_p.T112T	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	163				T -> S (in Ref. 1; AAA52138).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTCACCGTGCGTGCTCCGGA	0.662												
ATP1A3	478	broad.mit.edu	37	19	42492087	42492087	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:42492087C>T	uc002osg.2	-	4	511	c.357_splice	c.e4+1	p.N119_splice	ATP1A3_uc010xwf.1_Splice_Site_p.N130_splice|ATP1A3_uc010xwg.1_Splice_Site_p.N89_splice|ATP1A3_uc010xwh.1_Splice_Site_p.N132_splice|ATP1A3_uc002osh.2_Splice_Site_p.N119_splice	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit						ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGGCACTCACGTTGTCACCA	0.537												
CEACAM1	634	broad.mit.edu	37	19	43026353	43026353	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:43026353C>T	uc002otv.2	-	3	539	c.426G>A	c.(424-426)CCG>CCA	p.P142P	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.P142P|CEACAM1_uc010eij.2_Silent_p.P142P|CEACAM1_uc002otx.2_Silent_p.P142P|CEACAM1_uc002oty.2_Silent_p.P142P|CEACAM1_uc002otz.2_Silent_p.P142P|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.P142P|CEACAM1_uc002oub.2_Silent_p.P142P|CEACAM1_uc002ouc.2_Silent_p.P142P	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	142	Ig-like V-type.|Extracellular (Potential).			P -> H (in Ref. 5; AAA57142).	angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGCAGCTCCGCTATGCAGA	0.438												
CBLC	23624	broad.mit.edu	37	19	45281204	45281204	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:45281204G>A	uc002ozs.2	+	1	79	c.16G>A	c.(16-18)GCC>ACC	p.A6T	CBLC_uc010ejt.2_Missense_Mutation_p.A6T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	6					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCTGGCGGTGGCCCCGTGGGG	0.716			M		AML							
ERCC1	2067	broad.mit.edu	37	19	45916943	45916943	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:45916943G>T	uc002pbs.1	-	9	981	c.835C>A	c.(835-837)CCT>ACT	p.P279T	ERCC1_uc002pbt.1_Missense_Mutation_p.P255T|ERCC1_uc002pbu.1_Missense_Mutation_p.P207T|ERCC1_uc002pbv.2_Missense_Mutation_p.P279T	NM_001983	NP_001974	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isofrom 2	279					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ACTTTCTGAGGGCCCAGGCCT	0.517								NER				
GPR4	2828	broad.mit.edu	37	19	46094061	46094061	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:46094061A>G	uc002pcm.2	-	2	2009	c.1064T>C	c.(1063-1065)CTG>CCG	p.L355P	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	355	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGCATCTTCAGCTGCACCTG	0.612												
RASIP1	54922	broad.mit.edu	37	19	49238458	49238458	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49238458C>T	uc002pki.2	-	4	1371	c.1174G>A	c.(1174-1176)GCC>ACC	p.A392T		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	392					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTTACCTGGGCGTCCTGGTAG	0.652												
TULP2	7288	broad.mit.edu	37	19	49398261	49398261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49398261G>A	uc002pkz.2	-	6	659	c.508C>T	c.(508-510)CGA>TGA	p.R170*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	170					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TTACCAGGTCGTTGGTGGGCT	0.478												
MED25	81857	broad.mit.edu	37	19	50333052	50333052	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50333052C>A	uc002ppw.1	+	6	588	c.535C>A	c.(535-537)CAC>AAC	p.H179N	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'UTR	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	179	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCGGGGGATCCACTTCTCCAT	0.657												
MED25	81857	broad.mit.edu	37	19	50335366	50335366	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50335366G>A	uc002ppw.1	+	12	1379	c.1326G>A	c.(1324-1326)GAG>GAA	p.E442E	MED25_uc010ybe.1_Silent_p.E229E|MED25_uc002ppx.1_Silent_p.E223E	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	442	Interaction with VP16.|Interaction with CREBBP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GGAAGACGGAGCAGTGGCCCC	0.682												
MYH14	79784	broad.mit.edu	37	19	50764825	50764825	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50764825C>A	uc002prr.1	+	19	2442	c.2395C>A	c.(2395-2397)CGA>AGA	p.R799R	MYH14_uc010enu.1_Silent_p.R840R|MYH14_uc002prq.1_Silent_p.R807R	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	799	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAAGAGGAGCGAGACCTGAA	0.642												
LRRC4B	94030	broad.mit.edu	37	19	51021769	51021769	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51021769C>T	uc002pss.2	-	3	1338	c.1201G>A	c.(1201-1203)GGC>AGC	p.G401S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	401	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ATGAGGGTGCCGTTGGGCGTC	0.652												
KLK6	5653	broad.mit.edu	37	19	51465088	51465088	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51465088C>T	uc002pui.2	-	6	754	c.494G>A	c.(493-495)CGT>CAT	p.R165H	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R174H|KLK6_uc002puj.2_Missense_Mutation_p.R58H|KLK6_uc010ycn.1_Missense_Mutation_p.R58H|KLK6_uc002pul.2_Missense_Mutation_p.R165H|KLK6_uc002pum.2_Missense_Mutation_p.R58H	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	165	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACACTCCTCACGGGACACCAG	0.577												
KLK12	43849	broad.mit.edu	37	19	51537328	51537328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51537328C>T	uc002pvg.1	-	2	225	c.105G>A	c.(103-105)TGG>TGA	p.W35*	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Missense_Mutation_p.G12D|KLK12_uc010ycr.1_Missense_Mutation_p.G12D|KLK12_uc010ycs.1_Missense_Mutation_p.G12D|KLK12_uc002pvh.1_Nonsense_Mutation_p.W35*|KLK12_uc002pvi.1_Nonsense_Mutation_p.W35*|KLK12_uc002pvj.1_Nonsense_Mutation_p.W35*	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	35	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCACCTGCCACGGCTGTG	0.602												
SIGLEC12	89858	broad.mit.edu	37	19	52000164	52000164	+	Silent	SNP	G	G	A	rs145034575		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52000164G>A	uc002pwx.1	-	7	1625	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	SIGLEC12_uc002pww.1_Silent_p.D405D|SIGLEC12_uc010eoy.1_Silent_p.D250D	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	523	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577												
SIGLEC5	8778	broad.mit.edu	37	19	52115535	52115535	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52115535G>A	uc002pxe.2	-	9	1744	c.1605C>T	c.(1603-1605)GAC>GAT	p.D535D		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	535	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGCCTCCTGGTCCTTAGGCT	0.552												
FPR1	2357	broad.mit.edu	37	19	52249509	52249509	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52249509C>T	uc002pxq.2	-	2	834	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	247	Helical; Name=6; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AAGGCTGCTGCGACAAAGGAG	0.493												
TFPT	29844	broad.mit.edu	37	19	54618065	54618065	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:54618065C>A	uc010yej.1	-	2	445	c.39G>T	c.(37-39)GTG>GTT	p.V13V	TFPT_uc010erd.2_Silent_p.V13V|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	13					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTCAAAGCCCACGGCTGCCA	0.433			T	TCF3	pre-B ALL							
LENG8	114823	broad.mit.edu	37	19	54967272	54967272	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:54967272G>A	uc002qfv.1	+	8	1185	c.1041G>A	c.(1039-1041)ACG>ACA	p.T347T	LENG8_uc002qfw.2_Silent_p.T384T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	347							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCGAGGGACGCCCGGGGCTG	0.667												
NLRP7	199713	broad.mit.edu	37	19	55450913	55450913	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55450913G>A	uc002qih.3	-	4	1350	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	NLRP7_uc002qig.3_Missense_Mutation_p.A425V|NLRP7_uc002qii.3_Missense_Mutation_p.A425V|NLRP7_uc010esk.2_Missense_Mutation_p.A425V|NLRP7_uc010esl.2_Missense_Mutation_p.A453V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	425	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGACATCTGCGCCCACAGGCC	0.692												
NLRP2	55655	broad.mit.edu	37	19	55493930	55493930	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55493930C>T	uc002qij.2	+	6	950	c.864C>T	c.(862-864)GAC>GAT	p.D288D	NLRP2_uc010yfp.1_Silent_p.D265D|NLRP2_uc010esn.2_Silent_p.D264D|NLRP2_uc010eso.2_Silent_p.D285D|NLRP2_uc010esp.2_Silent_p.D266D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	288	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCGTGATTGACGGCTTTGATG	0.577												
SAPS1	22870	broad.mit.edu	37	19	55748048	55748048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55748048C>T	uc002qjw.3	-	17	2193	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	SAPS1_uc002qjv.2_Missense_Mutation_p.A713T	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	651	Glu-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCCCCCCTGGCCAGCTGGCTG	0.657												
ZNF784	147808	broad.mit.edu	37	19	56133455	56133455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:56133455G>A	uc002qll.1	-	2	648	c.634C>T	c.(634-636)CGA>TGA	p.R212*	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	212	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGTGGTCTCGCATGTCTGAG	0.512												
NLRP4	147945	broad.mit.edu	37	19	56369488	56369488	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:56369488C>T	uc002qmd.3	+	3	1151	c.729C>T	c.(727-729)CCC>CCT	p.P243P	NLRP4_uc002qmf.2_Silent_p.P168P|NLRP4_uc010etf.2_Silent_p.P74P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	243	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAACGAACCCGATTCGGATC	0.567												
ZNF470	388566	broad.mit.edu	37	19	57089695	57089695	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57089695G>A	uc002qnl.3	+	6	2574	c.1898G>A	c.(1897-1899)CGT>CAT	p.R633H	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	633	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTTAGCCATCGTAAATCCCTT	0.428												
ZNF835	90485	broad.mit.edu	37	19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57175695G>A	uc010ygo.1	-	2	938	c.938C>T	c.(937-939)GCG>GTG	p.A313V	ZNF835_uc010ygn.1_Missense_Mutation_p.A291V	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GGTCAGGTGCGCGATCTGCGC	0.697												
ZIM2	23619	broad.mit.edu	37	19	57286260	57286260	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57286260G>A	uc002qnr.2	-	11	1762	c.1380C>T	c.(1378-1380)TAC>TAT	p.Y460Y	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.Y256Y|ZIM2_uc010ygr.1_Silent_p.Y256Y|ZIM2_uc002qnq.2_Silent_p.Y460Y|ZIM2_uc010etp.2_Silent_p.Y460Y|ZIM2_uc010ygs.1_Silent_p.Y460Y	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCTCTCCAACGTAGTCATGTT	0.468												
ZNF543	125919	broad.mit.edu	37	19	57840064	57840064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57840064C>T	uc002qoi.1	+	4	1579	c.1234C>T	c.(1234-1236)CAG>TAG	p.Q412*		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	412	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACACCTCAAGCAGCATCAACG	0.498												
ZNF543	125919	broad.mit.edu	37	19	57840091	57840091	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57840091A>G	uc002qoi.1	+	4	1606	c.1261A>G	c.(1261-1263)AAG>GAG	p.K421E		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACTGGGGAGAAGCCTTATGA	0.493												
ZNF17	7565	broad.mit.edu	37	19	57932498	57932498	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57932498A>G	uc002qoo.1	+	3	1869	c.1638A>G	c.(1636-1638)AGA>AGG	p.R546R	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.R548R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	546	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GACATCGGAGAAATCACTTTG	0.408												
ZNF8	7554	broad.mit.edu	37	19	58806556	58806556	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58806556A>G	uc002qry.1	+	4	1512	c.1382A>G	c.(1381-1383)CAC>CGC	p.H461R	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAGAGGACTCACCGAAGCGAC	0.527												
ZNF324	25799	broad.mit.edu	37	19	58982184	58982184	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58982184G>A	uc002qsw.1	+	4	419	c.325G>A	c.(325-327)GTC>ATC	p.V109I	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GACTACTAGCGTCTTCCCTGT	0.552												
ZNF446	55663	broad.mit.edu	37	19	58988846	58988846	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58988846C>T	uc002qsz.2	+	2	378	c.261C>T	c.(259-261)CGC>CGT	p.R87R	ZNF446_uc002qta.2_Silent_p.R87R|ZNF446_uc010eur.2_Silent_p.R87R	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	87	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGGGTGCGCGGTCAGCGGC	0.652												
TRIM28	10155	broad.mit.edu	37	19	59059182	59059182	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:59059182A>G	uc002qtg.1	+	6	1152	c.863A>G	c.(862-864)CAG>CGG	p.Q288R	TRIM28_uc010eut.1_Missense_Mutation_p.Q206R|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	288	RBCC domain.|Leucine zipper alpha helical coiled-coil region.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCTGACGTACAGAAGCGTGTG	0.577												
TPO	7173	broad.mit.edu	37	2	1497755	1497755	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1497755G>A	uc002qww.2	+	11	2041	c.1950G>A	c.(1948-1950)GGG>GGA	p.G650G	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.G593G|TPO_uc002qwr.2_Silent_p.G650G|TPO_uc002qwx.2_Silent_p.G593G|TPO_uc010yio.1_Silent_p.G477G|TPO_uc010yip.1_Silent_p.G650G|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	650	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCGGACAGGGCCCCTGTTTG	0.567												
MYT1L	23040	broad.mit.edu	37	2	1926216	1926216	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1926216G>A	uc002qxe.2	-	10	2152	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	MYT1L_uc002qxd.2_Missense_Mutation_p.T442M|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCTCTTTCCGTTTCCAAAGC	0.547												
MYT1L	23040	broad.mit.edu	37	2	1983514	1983514	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1983514C>T	uc002qxe.2	-	6	863	c.36G>A	c.(34-36)ACG>ACA	p.T12T	MYT1L_uc002qxd.2_Silent_p.T12T|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	12					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTGGACCGCGTGCGATGCC	0.617												
KIDINS220	57498	broad.mit.edu	37	2	8871439	8871439	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:8871439G>A	uc002qzc.2	-	30	4909	c.4727C>T	c.(4726-4728)GCG>GTG	p.A1576V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1477V|KIDINS220_uc002qzb.2_Missense_Mutation_p.A430V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1576	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGAGCGCATCCGATAA	0.473												
NBAS	51594	broad.mit.edu	37	2	15679412	15679412	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:15679412C>T	uc002rcc.1	-	7	474	c.448G>A	c.(448-450)GCC>ACC	p.A150T	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	150	WD 1.									ovary(2)|liver(1)|skin(1)	4						GTGCTTTCGGCATAGGCCAGT	0.438												
DDX1	1653	broad.mit.edu	37	2	15771006	15771006	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:15771006T>C	uc002rce.2	+	26	2487	c.2199T>C	c.(2197-2199)CCT>CCC	p.P733P		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	733	Necessary for interaction with HNRNPK.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCTACCTTCCTAACCAGCTGT	0.408												
KCNS3	3790	broad.mit.edu	37	2	18112824	18112824	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:18112824C>T	uc002rcv.2	+	3	1000	c.549C>T	c.(547-549)TCC>TCT	p.S183S	KCNS3_uc002rcw.2_Silent_p.S183S	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	183	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTGCCTGTCCGCTAAGCTTA	0.512												
CENPO	79172	broad.mit.edu	37	2	25038554	25038554	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:25038554C>T	uc002rfo.1	+	5	712	c.523C>T	c.(523-525)CAC>TAC	p.H175Y	CENPO_uc002rfn.2_Missense_Mutation_p.H175Y|CENPO_uc002rfp.1_Missense_Mutation_p.H169Y|CENPO_uc002rfq.1_Missense_Mutation_p.H175Y	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	175					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAACATCCAGCACTTCCTGTT	0.478												
ADCY3	109	broad.mit.edu	37	2	25141779	25141779	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:25141779G>A	uc002rfs.3	-	1	277	c.78C>T	c.(76-78)TCC>TCT	p.S26S	ADCY3_uc010ykm.1_Silent_p.S26S	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	26	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGTCAGGGTCGGAGGGCAGGC	0.557												
OTOF	9381	broad.mit.edu	37	2	26698267	26698267	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:26698267G>A	uc002rhk.2	-	25	3213	c.3086C>T	c.(3085-3087)CCG>CTG	p.P1029L	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.P282L|OTOF_uc002rhi.2_Missense_Mutation_p.P339L|OTOF_uc002rhj.2_Missense_Mutation_p.P282L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1029	Cytoplasmic (Potential).|C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGATGGGCGGATCGTCCCT	0.572												
C2orf53	339779	broad.mit.edu	37	2	27360640	27360640	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27360640G>A	uc002rjb.2	-	3	1138	c.558C>T	c.(556-558)TCC>TCT	p.S186S		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	186											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637												
SLC5A6	8884	broad.mit.edu	37	2	27430328	27430328	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27430328C>T	uc002rjd.2	-	3	582	c.191G>A	c.(190-192)CGC>CAC	p.R64H	SLC5A6_uc010eyv.1_Missense_Mutation_p.R64H|SLC5A6_uc002rje.1_Missense_Mutation_p.R64H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	64					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCCCATTTTGCGGTCCGCCAT	0.612												
EIF2B4	8890	broad.mit.edu	37	2	27592748	27592748	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27592748G>A	uc002rkb.2	-	2	213	c.70C>T	c.(70-72)CCT>TCT	p.P24S	EIF2B4_uc002rjz.2_Missense_Mutation_p.P45S|EIF2B4_uc002rka.2_Missense_Mutation_p.P9S|EIF2B4_uc002rkc.2_Missense_Mutation_p.P24S|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_5'UTR|EIF2B4_uc002rkf.1_5'UTR|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	24					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCCCAGGCCCAGGGGGA	0.627												
C2orf16	84226	broad.mit.edu	37	2	27803796	27803796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27803796C>T	uc002rkz.3	+	1	4408	c.4357C>T	c.(4357-4359)CGA>TGA	p.R1453*	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1453										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGACCTCTTCGACTGCCCAA	0.507												
PLB1	151056	broad.mit.edu	37	2	28821628	28821628	+	Splice_Site	SNP	G	G	A	rs151120274		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:28821628G>A	uc002rmb.1	+	35	2474	c.2474_splice	c.e35+1	p.E825_splice	PLB1_uc010ezj.1_Splice_Site_p.E814_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAAGGCTGAGTATGGCATTT	0.552												
ALK	238	broad.mit.edu	37	2	29416518	29416518	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:29416518C>T	uc002rmy.2	-	29	5342	c.4435G>A	c.(4435-4437)GCA>ACA	p.A1479T	ALK_uc010ymo.1_Missense_Mutation_p.A411T	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1479	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGAGAGAATGCCATATTCACG	0.567			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
GALNT14	79623	broad.mit.edu	37	2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:31178570C>T	uc002rnr.2	-	6	1187	c.568G>A	c.(568-570)GCC>ACC	p.A190T	GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	190	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597												
XDH	7498	broad.mit.edu	37	2	31567565	31567565	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:31567565G>A	uc002rnv.1	-	31	3468	c.3389C>T	c.(3388-3390)GCC>GTC	p.A1130V		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1130					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACCCAGTGGCAGACAAGCT	0.542												
NRXN1	9378	broad.mit.edu	37	2	50280512	50280512	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:50280512G>A	uc010fbp.2	-	4	1637	c.830C>T	c.(829-831)GCC>GTC	p.A277V	NRXN1_uc002rxb.3_Missense_Mutation_p.A1014V|NRXN1_uc010fbq.2_Missense_Mutation_p.A1382V|NRXN1_uc002rxe.3_Missense_Mutation_p.A1312V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	277	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATTGCATGGCAGTGGCTGT	0.498												
RTN4	57142	broad.mit.edu	37	2	55254422	55254422	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:55254422T>C	uc002rye.2	-	3	1111	c.813A>G	c.(811-813)GAA>GAG	p.E271E	RTN4_uc002ryd.2_Silent_p.E65E|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	271	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						CTTTAGAAGCTTCACTGACAT	0.378												
PNPT1	87178	broad.mit.edu	37	2	55900055	55900055	+	Missense_Mutation	SNP	G	G	A	rs143022417	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:55900055G>A	uc002rzf.2	-	9	892	c.839C>T	c.(838-840)TCG>TTG	p.S280L	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	280					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATCTCTGGCGAAGGGGTAAA	0.383												
VRK2	7444	broad.mit.edu	37	2	58362312	58362312	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:58362312G>T	uc002rzo.2	+	13	1579	c.834G>T	c.(832-834)TGG>TGT	p.W278C	VRK2_uc010fcb.2_Missense_Mutation_p.W278C|VRK2_uc002rzs.2_Missense_Mutation_p.W278C|VRK2_uc002rzr.2_Missense_Mutation_p.W278C|VRK2_uc010fcc.2_Missense_Mutation_p.W160C|VRK2_uc002rzv.2_Missense_Mutation_p.W278C|VRK2_uc010fcd.2_Missense_Mutation_p.W255C|VRK2_uc002rzp.2_Missense_Mutation_p.W278C|VRK2_uc010ypg.1_Missense_Mutation_p.W278C|VRK2_uc002rzq.2_Missense_Mutation_p.W278C|VRK2_uc002rzu.2_Missense_Mutation_p.W278C|VRK2_uc002rzt.2_Missense_Mutation_p.W160C	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	278	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TGCTTAAATGGGCTCCTTCTG	0.393												
BCL11A	53335	broad.mit.edu	37	2	60688451	60688451	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:60688451C>T	uc002sae.1	-	4	1824	c.1596G>A	c.(1594-1596)GCG>GCA	p.A532A	BCL11A_uc002sab.2_Silent_p.A532A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.A201A|BCL11A_uc010ypj.1_Silent_p.A498A|BCL11A_uc002sad.1_Silent_p.A380A|BCL11A_uc002saf.1_Silent_p.A498A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	532					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCCCACGACCGCGCCCCGCG	0.647			T	IGH@	B-CLL							
ADD2	119	broad.mit.edu	37	2	70904970	70904970	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:70904970T>C	uc002sgz.2	-	12	1888	c.1423A>G	c.(1423-1425)ATG>GTG	p.M475V	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.M475V|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.M475V|ADD2_uc010fdt.1_Missense_Mutation_p.M475V|ADD2_uc002shc.1_Missense_Mutation_p.M475V|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.M491V	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	475					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CGAATCGGCATGCCACTGCTG	0.527												
TET3	200424	broad.mit.edu	37	2	74328185	74328185	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:74328185G>A	uc002skb.3	+	9	3865	c.3865G>A	c.(3865-3867)GAG>AAG	p.E1289K		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1289							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACCTCTGTCCGAGGTGTCTCA	0.597												
INO80B	83444	broad.mit.edu	37	2	74684957	74684957	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:74684957C>A	uc002slg.2	+	5	1082	c.1037C>A	c.(1036-1038)CCC>CAC	p.P346H	INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.P318H|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.P364H|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	346					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						CTGGGGGGGCCCGAGGGTCCT	0.637												
ADRA2B	151	broad.mit.edu	37	2	96781543	96781543	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:96781543G>A	uc002svi.2	-	1	346	c.346C>T	c.(346-348)CGC>TGC	p.R116C		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	116	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCCAGCGCGCGGCTCACGGCC	0.657												
ZAP70	7535	broad.mit.edu	37	2	98351887	98351887	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:98351887C>T	uc002syd.1	+	10	1464	c.1257C>T	c.(1255-1257)GGC>GGT	p.G419G	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.G309G|ZAP70_uc002syf.1_Silent_p.G112G	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	419	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TGGCTGGGGGCGGGCCGCTGC	0.682												
EIF5B	9669	broad.mit.edu	37	2	100015340	100015340	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:100015340C>T	uc002tab.2	+	23	3707	c.3523C>T	c.(3523-3525)CAT>TAT	p.H1175Y	EIF5B_uc010yvq.1_Missense_Mutation_p.H157Y	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1175					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GTTTGGAAGACATTTTGAAGC	0.373												
RANBP2	5903	broad.mit.edu	37	2	109380371	109380371	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:109380371C>T	uc002tem.3	+	20	3502	c.3376C>T	c.(3376-3378)CGG>TGG	p.R1126W		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1126					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTCTGGTTTTCGGCGAAGTGA	0.403												
FMNL2	114793	broad.mit.edu	37	2	153476212	153476212	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:153476212T>C	uc002tye.2	+	15	2184	c.1817T>C	c.(1816-1818)GTT>GCT	p.V606A	FMNL2_uc010fob.2_Missense_Mutation_p.V55A|FMNL2_uc002tyf.2_Missense_Mutation_p.V55A	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	606					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCCACAGTGGTTTTCAACTCA	0.493												
GALNT5	11227	broad.mit.edu	37	2	158115711	158115711	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:158115711C>A	uc002tzg.2	+	1	1372	c.1117C>A	c.(1117-1119)CCA>ACA	p.P373T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	373	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TTCACTTGCTCCACATAGAGT	0.398												
TBR1	10716	broad.mit.edu	37	2	162280036	162280036	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:162280036G>A	uc002ubw.1	+	6	1649	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	TBR1_uc010foy.2_Silent_p.A162A	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	449						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						Acccgggcgcgggcgcgggcc	0.607												
SCN2A	6326	broad.mit.edu	37	2	166245972	166245972	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:166245972T>C	uc002udc.2	+	27	5946	c.5656T>C	c.(5656-5658)TCA>CCA	p.S1886P	SCN2A_uc002udd.2_Missense_Mutation_p.S1886P|SCN2A_uc002ude.2_Missense_Mutation_p.S1886P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1886					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTCATGGCATCAAACCCCTC	0.458												
MAP1D	254042	broad.mit.edu	37	2	172945088	172945088	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:172945088C>T	uc002uhk.2	+	10	1035	c.962C>T	c.(961-963)ACG>ATG	p.T321M	MAP1D_uc010zdw.1_Missense_Mutation_p.T203M	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	321					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTTCTGATCACGTCGAGGGGC	0.622												
ZAK	51776	broad.mit.edu	37	2	174052313	174052313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:174052313C>T	uc002uhz.2	+	5	577	c.377C>T	c.(376-378)CCT>CTT	p.P126L	ZAK_uc002uhx.2_Missense_Mutation_p.P126L|ZAK_uc002uhy.2_Missense_Mutation_p.P126L|ZAK_uc010zei.1_Missense_Mutation_p.P25L|ZAK_uc002uia.1_Missense_Mutation_p.P126L	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	126	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			ATGGAGGCTCCTGTCAAGGTG	0.303												
TTN	7273	broad.mit.edu	37	2	179397303	179397303	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179397303C>A	uc010zfg.1	-	307	96559	c.96335G>T	c.(96334-96336)AGG>ATG	p.R32112M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25807M|TTN_uc010zfi.1_Missense_Mutation_p.R25740M|TTN_uc010zfj.1_Missense_Mutation_p.R25615M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACGCAGCCTCTCTTCCTC	0.463												
TTN	7273	broad.mit.edu	37	2	179428319	179428319	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179428319C>T	uc010zfg.1	-	275	75060	c.74836G>A	c.(74836-74838)GTT>ATT	p.V24946I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18641I|TTN_uc010zfi.1_Missense_Mutation_p.V18574I|TTN_uc010zfj.1_Missense_Mutation_p.V18449I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25873							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATCTAACGCCTTCCTTA	0.463												
TTN	7273	broad.mit.edu	37	2	179457588	179457588	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179457588T>C	uc010zfg.1	-	249	51778	c.51554A>G	c.(51553-51555)TAT>TGT	p.Y17185C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y10880C|TTN_uc010zfi.1_Missense_Mutation_p.Y10813C|TTN_uc010zfj.1_Missense_Mutation_p.Y10688C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18112							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAAACTTATAGGTTTGACC	0.458												
NEUROD1	4760	broad.mit.edu	37	2	182542721	182542721	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:182542721C>T	uc002uof.2	-	2	1103	c.867G>A	c.(865-867)CCG>CCA	p.P289P	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	289					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTCGGCGGACGGTTCGTGTT	0.537												
FAM171B	165215	broad.mit.edu	37	2	187618752	187618752	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:187618752G>A	uc002ups.2	+	6	1100	c.988G>A	c.(988-990)GCA>ACA	p.A330T	FAM171B_uc002upr.1_Missense_Mutation_p.A330T	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	330	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GTACTGGATAGCAGCTCCACT	0.358												
COL3A1	1281	broad.mit.edu	37	2	189863442	189863442	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:189863442A>G	uc002uqj.1	+	29	2137	c.2020A>G	c.(2020-2022)AAG>GAG	p.K674E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	674	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAGGAGGCAAGGTAGTATT	0.378												
GTF3C3	9330	broad.mit.edu	37	2	197657704	197657704	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:197657704A>G	uc002uts.2	-	3	477	c.387T>C	c.(385-387)AAT>AAC	p.N129N	GTF3C3_uc010zgu.1_Silent_p.N129N|GTF3C3_uc002utu.2_Silent_p.N129N	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	129						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TGGTTTCACGATTGAGAACCA	0.259												
SGOL2	151246	broad.mit.edu	37	2	201436999	201436999	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:201436999G>A	uc002uvw.2	+	7	2043	c.1930G>A	c.(1930-1932)GGT>AGT	p.G644S	SGOL2_uc010zhd.1_Missense_Mutation_p.G644S|SGOL2_uc010zhe.1_Missense_Mutation_p.G644S	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	644					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						CCTAAAAAAAGGTAATTTTTT	0.338												
FZD7	8324	broad.mit.edu	37	2	202900994	202900994	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:202900994A>G	uc002uyw.1	+	1	1685	c.1624A>G	c.(1624-1626)ATC>GTC	p.I542V		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	542	Helical; Name=7; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						GATCGTCGGCATCACCACTGG	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTH2R	5746	broad.mit.edu	37	2	209358139	209358139	+	Missense_Mutation	SNP	C	C	T	rs149793388		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:209358139C>T	uc002vdb.2	+	13	1621	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	PTH2R_uc010zjb.1_Missense_Mutation_p.R481C|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	470	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGCCAGCACACGCATGGTGCT	0.592												
MAP2	4133	broad.mit.edu	37	2	210570356	210570356	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:210570356C>T	uc002vde.1	+	11	4885	c.4637C>T	c.(4636-4638)TCC>TTC	p.S1546F	MAP2_uc002vdd.1_Missense_Mutation_p.S247F|MAP2_uc002vdf.1_Missense_Mutation_p.S190F|MAP2_uc002vdg.1_Missense_Mutation_p.S190F|MAP2_uc002vdh.1_Missense_Mutation_p.S247F|MAP2_uc002vdi.1_Missense_Mutation_p.S1542F	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1546					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGACCTTCCTCCATTCTCCCT	0.483												
CPS1	1373	broad.mit.edu	37	2	211457661	211457661	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:211457661C>T	uc002vee.3	+	11	1277	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	CPS1_uc010fur.2_Missense_Mutation_p.P388L|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	382	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAGGTCACCCCGGGGCCAATA	0.408												
ABCA12	26154	broad.mit.edu	37	2	215872505	215872505	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:215872505C>T	uc002vew.2	-	19	2758	c.2538G>A	c.(2536-2538)TCG>TCA	p.S846S	ABCA12_uc002vev.2_Silent_p.S528S|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	846					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAAAAGTGGCGACTTATCCA	0.383												
TNS1	7145	broad.mit.edu	37	2	218696225	218696225	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:218696225C>T	uc002vgt.2	-	20	3349	c.2951G>A	c.(2950-2952)GGC>GAC	p.G984D	TNS1_uc002vgr.2_Missense_Mutation_p.G984D|TNS1_uc002vgs.2_Missense_Mutation_p.G984D|TNS1_uc010zjv.1_Missense_Mutation_p.G984D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	984						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGTTTCAGGCCCAGAGCAGA	0.652												
CXCR1	3577	broad.mit.edu	37	2	219028909	219028909	+	Silent	SNP	C	C	T	rs144791200	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219028909C>T	uc002vhc.2	-	2	1145	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	342	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CATTGACAGACGAAGAAGTGT	0.468												
VIL1	7429	broad.mit.edu	37	2	219294155	219294155	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219294155G>A	uc002via.2	+	7	780	c.715G>A	c.(715-717)GCC>ACC	p.A239T	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Missense_Mutation_p.A239T|VIL1_uc002vic.1_Missense_Mutation_p.A239T	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	239	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGGCGGCCGTGCCCGA	0.637												
PLCD4	84812	broad.mit.edu	37	2	219498840	219498840	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219498840T>C	uc002vij.1	+	12	1814	c.1619T>C	c.(1618-1620)GTG>GCG	p.V540A	PLCD4_uc010zkk.1_3'UTR	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	540	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AATGAGTTTGTGCAGCACAAT	0.532												
FEV	54738	broad.mit.edu	37	2	219846895	219846895	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219846895C>A	uc002vji.1	-	3	793	c.211G>T	c.(211-213)GGT>TGT	p.G71C		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	71	ETS.				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCGTGACCGCCCTCCCAC	0.692			T	EWSR1| FUS	Ewing sarcoma							
IHH	3549	broad.mit.edu	37	2	219920566	219920566	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219920566G>A	uc002vjo.1	-	3	599	c.599C>T	c.(598-600)ACG>ATG	p.T200M		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	200					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCGCCCGTCTTGGCTGC	0.672												
CHPF	79586	broad.mit.edu	37	2	220405701	220405701	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220405701C>A	uc002vmc.3	-	3	1262	c.1035G>T	c.(1033-1035)CTG>CTT	p.L345L	CHPF_uc010zlh.1_Silent_p.L183L|TMEM198_uc002vme.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	345	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ACGTGCGTTCCAGTTCAGCTC	0.587												
OBSL1	23363	broad.mit.edu	37	2	220427220	220427220	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220427220G>A	uc010fwk.2	-	8	2914	c.2857C>T	c.(2857-2859)CGC>TGC	p.R953C	OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.R428C|OBSL1_uc002vmi.2_Missense_Mutation_p.R953C|OBSL1_uc002vmj.2_Missense_Mutation_p.R540C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	953	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACCAGGCGGCGGACAGTGTCT	0.632												
OBSL1	23363	broad.mit.edu	37	2	220428091	220428091	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220428091G>A	uc010fwk.2	-	7	2723	c.2666C>T	c.(2665-2667)ACT>ATT	p.T889I	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.T364I|OBSL1_uc002vmi.2_Missense_Mutation_p.T889I|OBSL1_uc002vmj.2_Missense_Mutation_p.T476I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	889	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGGTGACAGTGAAGTAGGC	0.667												
STK11IP	114790	broad.mit.edu	37	2	220476441	220476441	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220476441G>A	uc002vml.2	+	18	2296	c.2253G>A	c.(2251-2253)CCG>CCA	p.P751P		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	751					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTTCTCCGTCTGCCAGCC	0.617												
PAX3	5077	broad.mit.edu	37	2	223161807	223161807	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:223161807C>T	uc010fwo.2	-	2	577	c.211G>A	c.(211-213)GTC>ATC	p.V71I	PAX3_uc002vmt.1_Missense_Mutation_p.V71I|PAX3_uc002vmy.1_Missense_Mutation_p.V71I|PAX3_uc002vmv.1_Missense_Mutation_p.V71I|PAX3_uc002vmw.1_Missense_Mutation_p.V71I|PAX3_uc002vmx.1_Missense_Mutation_p.V71I|PAX3_uc002vmz.1_Missense_Mutation_p.V71I|PAX3_uc002vna.1_Missense_Mutation_p.V71I|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	71	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGAGATGACGCAGGGCCGG	0.647			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
DOCK10	55619	broad.mit.edu	37	2	225669993	225669993	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:225669993G>A	uc010fwz.1	-	36	4220	c.3981C>T	c.(3979-3981)GAC>GAT	p.D1327D	DOCK10_uc002vob.2_Silent_p.D1321D|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Silent_p.D181D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1327							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTAACTTGTCAAATCGAA	0.388												
DOCK10	55619	broad.mit.edu	37	2	225750838	225750838	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:225750838G>A	uc010fwz.1	-	6	793	c.554C>T	c.(553-555)TCC>TTC	p.S185F	DOCK10_uc002vob.2_Missense_Mutation_p.S179F|DOCK10_uc002vod.1_Missense_Mutation_p.S185F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	185	PH.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAGCCAGCCGGACTTGAAAAC	0.498												
TM4SF20	79853	broad.mit.edu	37	2	228228611	228228611	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:228228611A>G	uc002vpb.2	-	4	557	c.519T>C	c.(517-519)TCT>TCC	p.S173S		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	173	Extracellular (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGTGGAAACTAGATGCTCTCC	0.443												
HDAC4	9759	broad.mit.edu	37	2	240036871	240036871	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:240036871C>T	uc002vyk.3	-	13	2446	c.1654G>A	c.(1654-1656)GCA>ACA	p.A552T	HDAC4_uc010fyz.1_Missense_Mutation_p.A547T|HDAC4_uc010zoa.1_Missense_Mutation_p.A552T|HDAC4_uc010fza.2_Missense_Mutation_p.A557T|HDAC4_uc010fyy.2_Missense_Mutation_p.A509T|HDAC4_uc010znz.1_Missense_Mutation_p.A435T	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	552					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCGGCCTGTGCGTGCGCCTCC	0.701												
OR6B3	150681	broad.mit.edu	37	2	240984626	240984626	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:240984626C>T	uc010zoe.1	-	1	864	c.864G>A	c.(862-864)TTG>TTA	p.L288L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCAGTATATCAAGGGGTTCA	0.488												
MYEOV2	150678	broad.mit.edu	37	2	241069366	241069366	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:241069366G>A	uc002vyu.1	-	4	343	c.343C>T	c.(343-345)CGT>TGT	p.R115C		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCCTTCCCACGGACCCCGTGC	0.622												
KIF1A	547	broad.mit.edu	37	2	241708580	241708580	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:241708580G>A	uc002vzy.2	-	16	1586	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G	KIF1A_uc010fzk.2_Silent_p.G489G|KIF1A_uc002vzz.1_Silent_p.G489G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	480					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAAGGTGCCGCCATCCTCCC	0.587												
STK25	10494	broad.mit.edu	37	2	242438753	242438753	+	Silent	SNP	C	C	T	rs146698482		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:242438753C>T	uc002wbm.2	-	5	775	c.504G>A	c.(502-504)ACG>ACA	p.T168T	STK25_uc002wbk.2_5'UTR|STK25_uc002wbl.2_5'UTR|STK25_uc002wbn.2_Silent_p.T168T|STK25_uc002wbo.2_Silent_p.T91T|STK25_uc010zos.1_Silent_p.T74T|STK25_uc010zot.1_Silent_p.T94T|STK25_uc002wbp.2_Silent_p.T168T|STK25_uc010fzo.2_Silent_p.T91T|STK25_uc010zou.1_Silent_p.T74T|STK25_uc010zov.1_Silent_p.T74T	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	168	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCTTAATCTGCGTGTCTGTGA	0.612												
RSPO4	343637	broad.mit.edu	37	20	947857	947857	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:947857C>T	uc002wej.2	-	3	466	c.369G>A	c.(367-369)CCG>CCA	p.P123P	RSPO4_uc002wek.2_Silent_p.P123P	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	123	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						AAGTGCCCGGCGGGCAGGTGG	0.647												
SIRPB2	284759	broad.mit.edu	37	20	1471995	1471995	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:1471995G>A	uc002wfg.2	-	1	239	c.11C>T	c.(10-12)ACG>ATG	p.T4M	SIRPB2_uc002wfh.3_Missense_Mutation_p.T4M|SIRPB2_uc010zpr.1_Translation_Start_Site	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	4						integral to membrane					0						GGCCGACATCGTGGAGCACAT	0.612												
NOP56	10528	broad.mit.edu	37	20	2637428	2637428	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:2637428A>G	uc002wgh.2	+	10	1221	c.1168A>G	c.(1168-1170)ACG>GCG	p.T390A	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.T224A|NOP56_uc002wgm.1_Missense_Mutation_p.T137A|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	390	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						AGAGGTGCCCACGAGTGTATT	0.512												
PLCB1	23236	broad.mit.edu	37	20	8630047	8630047	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:8630047G>A	uc002wnb.2	+	7	548	c.545G>A	c.(544-546)CGG>CAG	p.R182Q	PLCB1_uc010zrb.1_Missense_Mutation_p.R81Q|PLCB1_uc010gbv.1_Missense_Mutation_p.R182Q|PLCB1_uc002wmz.1_Missense_Mutation_p.R182Q|PLCB1_uc002wna.2_Missense_Mutation_p.R182Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R81Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	182					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TCAGCAGATCGGAAGCGAGTT	0.358												
TASP1	55617	broad.mit.edu	37	20	13514762	13514762	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:13514762C>T	uc002woi.2	-	9	819	c.702G>A	c.(700-702)ACG>ACA	p.T234T	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.T211T|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	234		Nucleophile.		T->A: Complete loss of enzymatic activity; no intramolecular processing.	asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAGCGCCTACCGTGTCCAAAG	0.507												
C20orf26	26074	broad.mit.edu	37	20	20037346	20037346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:20037346C>T	uc002wru.2	+	2	125	c.49C>T	c.(49-51)CGA>TGA	p.R17*	C20orf26_uc010gcw.1_Intron|C20orf26_uc010zse.1_Nonsense_Mutation_p.R17*|C20orf26_uc010zsf.1_Nonsense_Mutation_p.R17*|CRNKL1_uc002wrs.2_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	17										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGTTCATTGCCGAAGAACAGA	0.353												
C20orf26	26074	broad.mit.edu	37	20	20232281	20232281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:20232281C>A	uc002wru.2	+	20	2278	c.2202C>A	c.(2200-2202)TGC>TGA	p.C734*	C20orf26_uc010zse.1_Nonsense_Mutation_p.C714*|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Nonsense_Mutation_p.C90*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	734										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGTCACTGTGCTCCTGGGTTA	0.502												
GZF1	64412	broad.mit.edu	37	20	23346149	23346149	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23346149T>C	uc010gdb.2	+	3	1303	c.1129T>C	c.(1129-1131)TTC>CTC	p.F377L	GZF1_uc002wsy.2_Missense_Mutation_p.F377L|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.F377L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	377	C2H2-type 3.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CGAGCGCCATTTCCCATGCGA	0.667												
CSTL1	128817	broad.mit.edu	37	20	23421091	23421091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23421091C>T	uc002wte.2	+	2	433	c.187C>T	c.(187-189)CGA>TGA	p.R63*	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	63						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTACTTATATCGAGTCCAGAG	0.463												
XKR7	343702	broad.mit.edu	37	20	30584709	30584709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:30584709G>A	uc002wxe.2	+	3	1363	c.1189G>A	c.(1189-1191)GCG>ACG	p.A397T		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	397	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAACGCCGCGCTCACCGG	0.597												
C20orf186	149954	broad.mit.edu	37	20	31672738	31672738	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:31672738C>T	uc010zue.1	+	4	733	c.718C>T	c.(718-720)CGG>TGG	p.R240W		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	240						cytoplasm|extracellular region	lipid binding				0						GGTGTCCGTGCGGCTCCTGCC	0.672												
MYH7B	57644	broad.mit.edu	37	20	33582038	33582038	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33582038C>T	uc002xbi.1	+	25	2752	c.2660C>T	c.(2659-2661)CCG>CTG	p.P887L		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	845						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGATGAAGCCGCTGCTGCGC	0.652												
PROCR	10544	broad.mit.edu	37	20	33764042	33764042	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33764042G>A	uc002xbt.2	+	3	578	c.394G>A	c.(394-396)GAA>AAA	p.E132K	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.E169K	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	132	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGTCTTCTTCGAAGTGGCTGT	0.602												
CEP250	11190	broad.mit.edu	37	20	34090421	34090421	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:34090421G>T	uc002xcm.2	+	31	4895	c.4224G>T	c.(4222-4224)CAG>CAT	p.Q1408H	CEP250_uc010zve.1_Missense_Mutation_p.Q776H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1408	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGCAAGAGCAGGGCGAACTGA	0.567												
CEP250	11190	broad.mit.edu	37	20	34091721	34091721	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:34091721G>A	uc002xcm.2	+	31	6195	c.5524G>A	c.(5524-5526)GCC>ACC	p.A1842T	CEP250_uc010zve.1_Missense_Mutation_p.A1210T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1842	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAAGGCAGACGCCCTCCAGGG	0.602												
TGIF2	60436	broad.mit.edu	37	20	35207307	35207307	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:35207307G>A	uc002xfn.2	+	2	303	c.130G>A	c.(130-132)GCC>ACC	p.A44T	C20orf24_uc002xfo.2_Missense_Mutation_p.A44T	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	44	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCGCTACAACGCCTACCCCTC	0.552												
C20orf117	140710	broad.mit.edu	37	20	35443741	35443741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:35443741C>T	uc002xgd.1	-	5	1717	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	464											0		Myeloproliferative disorder(115;0.00874)				CTGGGGCCCTCGCTGTTGTCG	0.632												
KIAA0406	9675	broad.mit.edu	37	20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	rs141770247	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483												
KIAA1755	85449	broad.mit.edu	37	20	36850996	36850996	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:36850996C>T	uc002xhy.1	-	10	2544	c.2272G>A	c.(2272-2274)GCT>ACT	p.A758T	KIAA1755_uc002xhx.1_Missense_Mutation_p.A36T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	758										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				CACCTGGTAGCCTCCTGCCAG	0.647											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RALGAPB	57148	broad.mit.edu	37	20	37168453	37168453	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:37168453G>A	uc002xiw.2	+	17	2671	c.2414G>A	c.(2413-2415)CGA>CAA	p.R805Q	RALGAPB_uc002xix.2_Missense_Mutation_p.R801Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.R805Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.R583Q|RALGAPB_uc002xja.1_Missense_Mutation_p.R532Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	805					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GACCGGAAGCGAGCCATCAGT	0.448												
DHX35	60625	broad.mit.edu	37	20	37632537	37632537	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:37632537G>A	uc002xjh.2	+	11	1009	c.998G>A	c.(997-999)CGC>CAC	p.R333H	DHX35_uc010zwa.1_Missense_Mutation_p.R178H|DHX35_uc010zwb.1_Missense_Mutation_p.R178H|DHX35_uc010zwc.1_Missense_Mutation_p.R302H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	333	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGGGTGTCACGCAGTGTCAGA	0.468												
CHD6	84181	broad.mit.edu	37	20	40043836	40043836	+	Missense_Mutation	SNP	G	G	A	rs146226470		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:40043836G>A	uc002xka.1	-	34	7107	c.6929C>T	c.(6928-6930)GCG>GTG	p.A2310V	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2310					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAAGATTCCCGCCTGAAGTGT	0.458												
MYBL2	4605	broad.mit.edu	37	20	42328684	42328684	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:42328684G>A	uc002xlb.1	+	7	1166	c.951G>A	c.(949-951)TCG>TCA	p.S317S	MYBL2_uc010zwj.1_Silent_p.S293S|MYBL2_uc002xla.1_Silent_p.S317S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGATCGAGTCGGTATGTTGGT	0.552												
KCNK15	60598	broad.mit.edu	37	20	43378801	43378801	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43378801C>T	uc002xmr.2	+	2	379	c.315C>T	c.(313-315)TCC>TCT	p.S105S		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	105						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GTACGGACTCCGGCAAGGTCT	0.687												
RBPJL	11317	broad.mit.edu	37	20	43945492	43945492	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43945492C>T	uc002xns.2	+	12	1519	c.1447C>T	c.(1447-1449)CCG>TCG	p.P483S	RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	483	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCGTGCGGCCGGGTCACCC	0.662												
RBPJL	11317	broad.mit.edu	37	20	43945567	43945567	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43945567C>T	uc002xns.2	+	12	1594	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	508	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGAGTTCACGCGCACCAACTT	0.711												
ZSWIM3	140831	broad.mit.edu	37	20	44507168	44507168	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:44507168G>A	uc002xqd.2	+	2	2174	c.1971G>A	c.(1969-1971)CAG>CAA	p.Q657Q	ZSWIM3_uc010zxg.1_Silent_p.Q651Q|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	657							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GCCCCTCCCAGCCATCTGAGC	0.592												
SLC13A3	64849	broad.mit.edu	37	20	45192184	45192184	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:45192184G>A	uc002xsf.1	-	12	1539	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	SLC13A3_uc010ghn.1_Missense_Mutation_p.R470C|SLC13A3_uc010zxw.1_Missense_Mutation_p.R451C|SLC13A3_uc002xsg.1_Missense_Mutation_p.R454C|SLC13A3_uc010gho.1_Missense_Mutation_p.R419C|SLC13A3_uc010zxx.1_Missense_Mutation_p.R403C|SLC13A3_uc002xse.1_5'UTR|SLC13A3_uc010ghm.1_Missense_Mutation_p.R88C|SLC13A3_uc010zxv.1_Missense_Mutation_p.R86C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	501	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTCTCAGGCGGATGGCCTGG	0.512												
TP53RK	112858	broad.mit.edu	37	20	45315714	45315714	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:45315714C>T	uc002xsk.2	-	2	663	c.440G>A	c.(439-441)GGG>GAG	p.G147E	SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	p53-related protein kinase	147	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Myeloproliferative disorder(115;0.0122)				CAAAACCTGCCCAATTGTCTT	0.478												
PREX1	57580	broad.mit.edu	37	20	47244406	47244406	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47244406C>T	uc002xtw.1	-	38	4885	c.4862G>A	c.(4861-4863)CGG>CAG	p.R1621Q	PREX1_uc002xtv.1_Missense_Mutation_p.R918Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1621					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCTGCTTCCGCATGATGTC	0.667												
ZNFX1	57169	broad.mit.edu	37	20	47865967	47865967	+	Silent	SNP	C	C	T	rs146287599		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47865967C>T	uc002xui.2	-	14	3841	c.3594G>A	c.(3592-3594)TCG>TCA	p.S1198S		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1198							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCGCACTAGCGAGAGGAGGA	0.532												
ZNFX1	57169	broad.mit.edu	37	20	47887288	47887288	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47887288C>T	uc002xui.2	-	3	1308	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	354							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATATTGGGGCGAAGGAAGGG	0.502												
PTGIS	5740	broad.mit.edu	37	20	48166701	48166701	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:48166701G>T	uc002xut.2	-	2	154	c.100C>A	c.(100-102)CTG>ATG	p.L34M	PTGIS_uc010zyi.1_Translation_Start_Site	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	34					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATGCTGCCCAGGTCCAGGGGA	0.532												
NFATC2	4773	broad.mit.edu	37	20	50139969	50139969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50139969G>A	uc002xwd.2	-	2	1031	c.811C>T	c.(811-813)CGC>TGC	p.R271C	NFATC2_uc002xwc.2_Missense_Mutation_p.R271C|NFATC2_uc010zyv.1_Missense_Mutation_p.R52C|NFATC2_uc010zyw.1_Missense_Mutation_p.R52C|NFATC2_uc010zyx.1_Missense_Mutation_p.R251C|NFATC2_uc010zyy.1_Missense_Mutation_p.R52C|NFATC2_uc010zyz.1_Missense_Mutation_p.R52C|NFATC2_uc002xwe.2_Missense_Mutation_p.R251C	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	271	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CTCCGGGAGCGCTGGGGTGAG	0.731												
ATP9A	10079	broad.mit.edu	37	20	50241845	50241845	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50241845C>T	uc002xwg.1	-	18	1902	c.1902G>A	c.(1900-1902)ACG>ACA	p.T634T	ATP9A_uc010gih.1_Silent_p.T498T|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	634	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TCTCGATCACCGTGGCCACTT	0.632												
SALL4	57167	broad.mit.edu	37	20	50401022	50401022	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50401022C>T	uc002xwh.3	-	4	3045	c.2944G>A	c.(2944-2946)GTG>ATG	p.V982M	SALL4_uc010gii.2_Missense_Mutation_p.V545M|SALL4_uc002xwi.3_Missense_Mutation_p.V205M	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	982					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTGGTCTTCACGGCCAGACCG	0.547												
CTCFL	140690	broad.mit.edu	37	20	56098859	56098859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:56098859C>T	uc010gix.1	-	1	1065	c.403G>A	c.(403-405)GCC>ACC	p.A135T	CTCFL_uc010giw.1_Missense_Mutation_p.A135T|CTCFL_uc002xym.2_Missense_Mutation_p.A135T|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.A135T|CTCFL_uc010gjb.1_Missense_Mutation_p.A135T|CTCFL_uc010gjc.1_Missense_Mutation_p.A135T|CTCFL_uc010gjd.1_Missense_Mutation_p.A135T|CTCFL_uc010gje.2_Missense_Mutation_p.A135T|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.A135T|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.A135T|CTCFL_uc010gjk.1_Missense_Mutation_p.A135T|CTCFL_uc010gjl.1_Missense_Mutation_p.A135T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	135					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATACTAATGGCCACACACTGC	0.577												
NPEPL1	79716	broad.mit.edu	37	20	57269566	57269566	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57269566G>A	uc010zzs.1	+	3	520	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	NPEPL1_uc010zzr.1_Missense_Mutation_p.R94Q|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R114Q|NPEPL1_uc002xzp.2_Missense_Mutation_p.R30Q	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	142					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGTGCCTCTCGGCGCTTGGAG	0.632												
GNAS	2778	broad.mit.edu	37	20	57429164	57429164	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57429164G>A	uc002xzw.2	+	1	1129	c.844G>A	c.(844-846)GGC>AGC	p.G282S	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
TUBB1	81027	broad.mit.edu	37	20	57599419	57599419	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57599419G>A	uc002yak.2	+	4	1206	c.937G>A	c.(937-939)GTG>ATG	p.V313M		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	313					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTACCTCACAGTGGCCTGCAT	0.612												
CDH4	1002	broad.mit.edu	37	20	60503335	60503335	+	Missense_Mutation	SNP	C	C	T	rs138803497		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:60503335C>T	uc002ybn.1	+	12	1873	c.1859C>T	c.(1858-1860)GCG>GTG	p.A620V	CDH4_uc002ybp.1_Missense_Mutation_p.A546V	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	620	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAAGGAGGCGCAGATCTGC	0.622												
LAMA5	3911	broad.mit.edu	37	20	60913399	60913399	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:60913399C>T	uc002ycq.2	-	13	1712	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	549	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTCATCGGCCACTCCAGGG	0.647												
CHRNA4	1137	broad.mit.edu	37	20	61981063	61981063	+	Missense_Mutation	SNP	G	G	A	rs76895198		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:61981063G>A	uc002yes.2	-	5	1878	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	CHRNA4_uc002yet.1_Missense_Mutation_p.A391V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.A496V|CHRNA4_uc002yev.1_Missense_Mutation_p.A391V|CHRNA4_uc010gkf.1_Missense_Mutation_p.A391V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	567	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCCCTCCACCGCCCGGGTCAG	0.672												
KCNQ2	3785	broad.mit.edu	37	20	62038258	62038258	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62038258C>T	uc002yey.1	-	17	2535	c.2358G>A	c.(2356-2358)ACG>ACA	p.T786T	KCNQ2_uc002yez.1_Silent_p.T755T|KCNQ2_uc002yfa.1_Silent_p.T768T|KCNQ2_uc002yfb.1_Silent_p.T758T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	786	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGAGATGGACGTGTCGCTGT	0.672												
MYT1	4661	broad.mit.edu	37	20	62853330	62853330	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62853330C>G	uc002yii.2	+	14	2690	c.2326C>G	c.(2326-2328)CCG>GCG	p.P776A	MYT1_uc002yih.2_Missense_Mutation_p.P478A|MYT1_uc002yij.2_Missense_Mutation_p.P435A	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	776					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCGGAAGTATCCGGGGGAAGT	0.498												
MYT1	4661	broad.mit.edu	37	20	62863600	62863600	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62863600C>T	uc002yii.2	+	19	3123	c.2759C>T	c.(2758-2760)GCC>GTC	p.A920V	MYT1_uc002yij.2_Missense_Mutation_p.A579V	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	920					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCCCACTGGCCGCCCGCAGG	0.647												
PCMTD2	55251	broad.mit.edu	37	20	62904883	62904883	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62904883G>A	uc002yil.3	+	6	1216	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	PCMTD2_uc002yim.3_Missense_Mutation_p.R312H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	339						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACTTCCTACGCCAGAAGGTC	0.493												
TMPRSS15	5651	broad.mit.edu	37	21	19744529	19744529	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:19744529G>A	uc002ykw.2	-	6	676	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	215	Extracellular (Potential).|LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TATTGTCTTCGTCAGAACCAT	0.373												
CCT8	10694	broad.mit.edu	37	21	30433672	30433672	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:30433672C>T	uc002ynb.2	-	13	1450	c.1351G>A	c.(1351-1353)GCA>ACA	p.A451T	CCT8_uc002ymz.2_Missense_Mutation_p.A67T|CCT8_uc011acp.1_Missense_Mutation_p.A432T|CCT8_uc002yna.2_Missense_Mutation_p.A400T|CCT8_uc002ync.2_Missense_Mutation_p.A450T|CCT8_uc010glm.2_Missense_Mutation_p.A392T|CCT8_uc011acq.1_Missense_Mutation_p.A378T	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	451					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TCTGCCAGTGCGCGGGGAATA	0.368												
KRTAP13-4	284827	broad.mit.edu	37	21	31802859	31802859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:31802859C>T	uc011acw.1	+	1	266	c.266C>T	c.(265-267)TCC>TTC	p.S89F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	89						intermediate filament					0						GGCTTTCGGTCCAGCAGCTGT	0.572												
GCFC1	94104	broad.mit.edu	37	21	34134492	34134492	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34134492A>G	uc002yqn.2	-	4	976	c.786T>C	c.(784-786)AGT>AGC	p.S262S	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.S262S|GCFC1_uc002yqr.2_Silent_p.S262S	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	262						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						CTTCATCATCACTGGCATCAT	0.408												
SON	6651	broad.mit.edu	37	21	34923050	34923050	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34923050G>A	uc002yse.1	+	3	1562	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	SON_uc002ysb.1_Missense_Mutation_p.E505K|SON_uc002ysc.2_Missense_Mutation_p.E505K|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	505					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						GGAGTTGACCGAACAACCTGT	0.582												
BRWD1	54014	broad.mit.edu	37	21	40610462	40610462	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:40610462G>A	uc002yxk.1	-	22	2658	c.2519C>T	c.(2518-2520)TCA>TTA	p.S840L	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.S840L|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.S293L|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S516L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATCCTCTTCTGAAGAACCAGA	0.378												
PRDM15	63977	broad.mit.edu	37	21	43239979	43239979	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:43239979T>C	uc002yzq.1	-	25	3428	c.3317A>G	c.(3316-3318)CAC>CGC	p.H1106R	PRDM15_uc002yzo.2_Missense_Mutation_p.H777R|PRDM15_uc002yzp.2_Missense_Mutation_p.H797R|PRDM15_uc002yzr.1_Missense_Mutation_p.H797R	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1106	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GACATTGTCGTGCACACGCAT	0.617												
PWP2	5822	broad.mit.edu	37	21	45540349	45540349	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45540349G>A	uc002zeb.2	+	11	1399	c.1309G>A	c.(1309-1311)GGG>AGG	p.G437R		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	437	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATCCATGGACGGGACCGTGCG	0.602												
PWP2	5822	broad.mit.edu	37	21	45544527	45544527	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45544527C>T	uc002zeb.2	+	15	1974	c.1884C>T	c.(1882-1884)TTC>TTT	p.F628F		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	628	WD 13.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGTCCAAGTTCGTGTGCATCT	0.607												
DNMT3L	29947	broad.mit.edu	37	21	45671576	45671576	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45671576C>A	uc002zeg.1	-	9	1183	c.699G>T	c.(697-699)GAG>GAT	p.E233D	DNMT3L_uc002zeh.1_Missense_Mutation_p.E233D	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	233					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTCCCCACTCCTCCACCTGCA	0.647												
TRPM2	7226	broad.mit.edu	37	21	45855098	45855098	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45855098G>A	uc002zet.1	+	29	4272	c.4059G>A	c.(4057-4059)ACG>ACA	p.T1353T	TRPM2_uc002zeu.1_Silent_p.T1353T|TRPM2_uc002zew.1_Silent_p.T1353T|TRPM2_uc010gpt.1_Silent_p.T1403T|TRPM2_uc002zex.1_Silent_p.T1139T|TRPM2_uc002zey.1_Silent_p.T832T|TRPM2_uc011aff.1_Silent_p.T34T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1353	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCATGGTCACGCGGTGAGTTC	0.682												
C21orf29	54084	broad.mit.edu	37	21	45949813	45949813	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45949813G>A	uc002zfe.1	-	5	724	c.658C>T	c.(658-660)CTG>TTG	p.L220L	C21orf29_uc010gpv.1_Silent_p.L152L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	220	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GAGCCCGGCAGCAGGACCAGT	0.687												
C21orf29	54084	broad.mit.edu	37	21	45950952	45950952	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45950952G>A	uc002zfe.1	-	4	673	c.607C>T	c.(607-609)CGG>TGG	p.R203W	C21orf29_uc010gpv.1_Missense_Mutation_p.R135W	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	203	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GCTCTCCTCCGGCTGCCGACG	0.587												
KRTAP10-2	386679	broad.mit.edu	37	21	45971168	45971168	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45971168G>A	uc002zfi.1	-	1	221	c.174C>T	c.(172-174)TGC>TGT	p.C58C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	58	22 X 5 AA repeats of C-C-X(3).|3.					keratin filament				large_intestine(1)	1						AGGCCGCCTGGCAGCAGGGGC	0.701												
KRTAP10-4	386672	broad.mit.edu	37	21	45994612	45994612	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45994612T>C	uc002zfk.1	+	1	1007	c.977T>C	c.(976-978)GTG>GCG	p.V326A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	326	36 X 5 AA repeats of C-C-X(3).|30.					keratin filament					0						TGCAAGCCTGTGAGCTGTGTG	0.627												
ITGB2	3689	broad.mit.edu	37	21	46309915	46309915	+	Silent	SNP	G	G	A	rs61747606	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:46309915G>A	uc002zgd.2	-	11	1679	c.1635C>T	c.(1633-1635)AAC>AAT	p.N545N	ITGB2_uc002zge.2_Silent_p.N545N|ITGB2_uc002zgf.3_Silent_p.N545N|ITGB2_uc011afl.1_Silent_p.N467N|ITGB2_uc010gpw.2_Silent_p.N488N|ITGB2_uc002zgg.2_Silent_p.N545N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	545	Extracellular (Potential).|Cysteine-rich tandem repeats.|III.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGACCTGGCCGTTGTAGCGCT	0.652												
ADARB1	104	broad.mit.edu	37	21	46596126	46596126	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:46596126C>T	uc002zgy.2	+	4	945	c.510C>T	c.(508-510)GCC>GCT	p.A170A	ADARB1_uc002zgr.2_Silent_p.A170A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.A170A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.A170A|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.A219A	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	170					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CTGACCAGGCCGACTTCCCTG	0.557												
COL6A1	1291	broad.mit.edu	37	21	47423591	47423591	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:47423591C>T	uc002zhu.1	+	35	2853	c.2751C>T	c.(2749-2751)AAC>AAT	p.N917N	COL6A1_uc010gqd.1_Silent_p.N248N|COL6A1_uc002zhv.1_Silent_p.N248N|COL6A1_uc002zhw.1_Silent_p.N11N	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	917	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGACGTCAACGATGCCCTGG	0.642												
FTCD	10841	broad.mit.edu	37	21	47571587	47571587	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:47571587G>A	uc002zif.2	-	5	565	c.521C>T	c.(520-522)ACG>ATG	p.T174M	FTCD_uc002zig.2_Missense_Mutation_p.T174M|FTCD_uc002zih.2_Missense_Mutation_p.T174M|FTCD_uc010gqf.2_Missense_Mutation_p.T174M|FTCD_uc010gqg.1_Missense_Mutation_p.T43M	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	174	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCCCGTGGCCGTGGCCCCCCA	0.642												
PRMT2	3275	broad.mit.edu	37	21	48068533	48068533	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:48068533T>C	uc002zjx.2	+	6	803	c.489_splice	c.e6+2	p.A163_splice	PRMT2_uc002zjw.2_Splice_Site_p.A163_splice|PRMT2_uc002zjy.2_Splice_Site_p.A163_splice|PRMT2_uc010gqm.2_Splice_Site_p.A163_splice|PRMT2_uc011aga.1_Splice_Site_p.A163_splice|PRMT2_uc011agb.1_Splice_Site_p.A163_splice|PRMT2_uc011agc.1_Splice_Site_p.A163_splice|PRMT2_uc002zjz.1_Splice_Site_p.A49_splice	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1						developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CCTAGAGCGGTGAGTGGGGTC	0.592												
RTN4R	65078	broad.mit.edu	37	22	20230131	20230131	+	Silent	SNP	G	G	A	rs140080129		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:20230131G>A	uc002zrv.2	-	2	726	c.525C>T	c.(523-525)CGC>CGT	p.R175R	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	175	LRR 5.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					TGCCCAGGTCGCGGAAGGTGT	0.677												
CCDC116	164592	broad.mit.edu	37	22	21989326	21989326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21989326G>A	uc002zve.2	+	4	1067	c.974G>A	c.(973-975)CGT>CAT	p.R325H	CCDC116_uc011aih.1_Missense_Mutation_p.R325H	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	325										ovary(1)|skin(1)	2	Colorectal(54;0.105)					GATAAGCTCCGTGGCGCCCAC	0.652												
CCDC116	164592	broad.mit.edu	37	22	21989345	21989345	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21989345C>T	uc002zve.2	+	4	1086	c.993C>T	c.(991-993)GAC>GAT	p.D331D	CCDC116_uc011aih.1_Silent_p.D331D	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										ovary(1)|skin(1)	2	Colorectal(54;0.105)					ACTGCCGCGACGGCCGTCCTC	0.647												
CABIN1	23523	broad.mit.edu	37	22	24560391	24560391	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:24560391C>T	uc002zzi.1	+	30	4897	c.4770C>T	c.(4768-4770)GAC>GAT	p.D1590D	CABIN1_uc002zzj.1_Silent_p.D1511D|CABIN1_uc002zzl.1_Silent_p.D1590D|CABIN1_uc002zzm.1_Silent_p.D15D	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1590					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TCCCCGTGGACGAGATTGACC	0.657												
SUSD2	56241	broad.mit.edu	37	22	24580158	24580158	+	Missense_Mutation	SNP	G	G	A	rs139840706		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:24580158G>A	uc002zzn.1	+	4	538	c.494G>A	c.(493-495)CGT>CAT	p.R165H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	165	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AACGAGACGCGTTGGCAATAC	0.607												
SGSM1	129049	broad.mit.edu	37	22	25294248	25294248	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:25294248G>A	uc003abg.2	+	20	2654	c.2497G>A	c.(2497-2499)GTG>ATG	p.V833M	SGSM1_uc003abh.2_Missense_Mutation_p.V772M|SGSM1_uc010guu.1_Missense_Mutation_p.V778M|SGSM1_uc003abj.2_Missense_Mutation_p.V717M|SGSM1_uc003abi.1_Missense_Mutation_p.V753M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	833	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						GGAGCTGGCCGTGCAGGACAG	0.642												
HPS4	89781	broad.mit.edu	37	22	26862218	26862218	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:26862218G>A	uc003acl.2	-	9	1339	c.680C>T	c.(679-681)ACG>ATG	p.T227M	HPS4_uc003aci.2_Missense_Mutation_p.T222M|HPS4_uc003acj.2_Missense_Mutation_p.T73M|HPS4_uc003ack.2_Missense_Mutation_p.T18M|HPS4_uc003acn.2_Missense_Mutation_p.T73M|HPS4_uc010gvd.1_Missense_Mutation_p.T227M|HPS4_uc003ach.2_Translation_Start_Site	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	227					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						ATCCTCTCCCGTAGGGAGTCT	0.507									Hermansky-Pudlak_syndrome			
OSM	5008	broad.mit.edu	37	22	30660134	30660134	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:30660134G>A	uc003ahb.2	-	3	549	c.497C>T	c.(496-498)ACG>ATG	p.T166M		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	166					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GCCAGCCTTCGTGGGCTCAGC	0.637												
SLC35E4	339665	broad.mit.edu	37	22	31042594	31042594	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:31042594T>G	uc003ais.1	+	2	1274	c.629T>G	c.(628-630)CTG>CGG	p.L210R	SLC35E4_uc003ait.2_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	210	Leu-rich.					integral to membrane					0						GGTGCCCTGCTGCAGGAGGAG	0.652												
OSBP2	23762	broad.mit.edu	37	22	31285625	31285625	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:31285625T>C	uc003aiy.1	+	7	1727	c.1623_splice	c.e7+2	p.P541_splice	OSBP2_uc011ala.1_Splice_Site_p.P375_splice|OSBP2_uc010gwc.1_Splice_Site_p.P368_splice|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Splice_Site_p.P540_splice|OSBP2_uc003aja.1_Splice_Site_p.P174_splice|OSBP2_uc011alc.1_Splice_Site_p.P283_splice|OSBP2_uc003ajb.2_Splice_Site_p.P86_splice|OSBP2_uc011ald.1_Splice_Site_p.P85_splice|OSBP2_uc010gwd.1_Splice_Site_p.P86_splice	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a						lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCCATGCCGGTGGGTGGCTCG	0.607												
NCF4	4689	broad.mit.edu	37	22	37266489	37266489	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:37266489G>T	uc003apy.3	+	5	559	c.375G>T	c.(373-375)ATG>ATT	p.M125I	NCF4_uc003apz.3_Missense_Mutation_p.M125I	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	125	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						GGGTGCTGATGGATGAGGACG	0.617												
MICALL1	85377	broad.mit.edu	37	22	38322027	38322027	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38322027G>A	uc003aui.2	+	8	1526	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	481	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CCTGCCCCGCGCGCACCCAGC	0.706												
POLR2F	5435	broad.mit.edu	37	22	38355453	38355453	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38355453G>A	uc003aul.2	+	3	312	c.191G>A	c.(190-192)CGC>CAC	p.R64H	POLR2F_uc010gxi.2_Silent_p.P57P|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	64					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					GAGCGAGCCCGCGTGCTGGGC	0.582												
KCNJ4	3761	broad.mit.edu	37	22	38823826	38823826	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38823826G>A	uc003avs.1	-	2	409	c.312C>T	c.(310-312)GGC>GGT	p.G104G	KCNJ4_uc003avt.1_Silent_p.G104G	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	104	Poly-Gly.|Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GGGCTGCTCCGCCACCAcccg	0.562												
KCNJ4	3761	broad.mit.edu	37	22	38824116	38824116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38824116C>T	uc003avs.1	-	2	119	c.22G>A	c.(22-24)GGC>AGC	p.G8S	KCNJ4_uc003avt.1_Missense_Mutation_p.G8S	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	8	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGGGCCTGGCCGTTGCGGCTG	0.657												
SMCR7L	54471	broad.mit.edu	37	22	39907950	39907950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:39907950C>T	uc003axx.2	+	4	739	c.241C>T	c.(241-243)CGA>TGA	p.R81*	SMCR7L_uc003axw.2_Nonsense_Mutation_p.R81*|SMCR7L_uc010gxz.1_Translation_Start_Site|SMCR7L_uc003axy.2_Translation_Start_Site	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	81						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GGGCTCCCCACGACTGCTGAA	0.622												
CYP2D6	1565	broad.mit.edu	37	22	42522946	42522946	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:42522946C>T	uc003bce.2	-	8	1312	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.V102I|CYP2D6_uc003bcf.2_Missense_Mutation_p.V357I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	408							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						TTCTCCCAGACGGCCTCATCC	0.602												
CYP2D6	1565	broad.mit.edu	37	22	42526712	42526712	+	Missense_Mutation	SNP	G	G	A	rs138100349	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:42526712G>A	uc003bce.2	-	1	172	c.82C>T	c.(82-84)CGC>TGC	p.R28C	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'Flank|CYP2D6_uc003bcf.2_Missense_Mutation_p.R28C	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	28							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						GCAGCCCAGCGTTGGCGCCGG	0.627												
TTLL1	25809	broad.mit.edu	37	22	43447858	43447858	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:43447858G>A	uc003bdi.2	-	9	1168	c.927C>T	c.(925-927)TGC>TGT	p.C309C	TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.C195C|TTLL1_uc003bdh.2_Silent_p.C271C	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	309	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGTAGCCATAGCATTCAAAGC	0.572												
C22orf9	23313	broad.mit.edu	37	22	45601544	45601544	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:45601544G>A	uc003bfx.1	-	4	447	c.381C>T	c.(379-381)GGC>GGT	p.G127G	C22orf9_uc010gzw.1_Intron|C22orf9_uc003bfv.1_Silent_p.G136G|C22orf9_uc003bfw.1_Silent_p.G132G|C22orf9_uc010gzx.2_Silent_p.G109G	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	127							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		GAATGTCCCCGCCGTCAGCAC	0.612												
PKDREJ	10343	broad.mit.edu	37	22	46655628	46655628	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:46655628C>T	uc003bhh.2	-	1	3592	c.3592G>A	c.(3592-3594)GTG>ATG	p.V1198M		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1198	Helical; (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCCCACGTATAAGAGA	0.428												
TTLL8	164714	broad.mit.edu	37	22	50472806	50472806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50472806G>A	uc011ark.1	-	9	1007	c.1007C>T	c.(1006-1008)GCG>GTG	p.A336V		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GGACTTGGCCGCGGGCTTTAT	0.587												
PANX2	56666	broad.mit.edu	37	22	50615416	50615416	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50615416C>T	uc003bjn.3	+	2	275	c.275C>T	c.(274-276)GCG>GTG	p.A92V	PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Missense_Mutation_p.A92V	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	92	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGCGACCAGGCGCTGTACGCC	0.692												
TRABD	80305	broad.mit.edu	37	22	50636357	50636357	+	Silent	SNP	C	C	T	rs147697891	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50636357C>T	uc003bjq.1	+	8	863	c.777C>T	c.(775-777)CGC>CGT	p.R259R	TRABD_uc003bjr.1_Silent_p.R143R|TRABD_uc003bjs.1_Silent_p.R259R|TRABD_uc003bjt.1_Silent_p.R259R|TRABD_uc003bju.1_Silent_p.R259R|TRABD_uc003bjv.2_Silent_p.R259R|TRABD_uc003bjw.1_Silent_p.R259R	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	259											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TCTCGGAGCGCGACGTCTACC	0.662												
TUBGCP6	85378	broad.mit.edu	37	22	50682481	50682481	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50682481G>A	uc003bkb.1	-	1	920	c.408C>T	c.(406-408)AAC>AAT	p.N136N	TUBGCP6_uc010har.1_Silent_p.N136N|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.N136N	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	136					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCACATGCTTGTTGTTAAGGA	0.522												
HDAC10	83933	broad.mit.edu	37	22	50684142	50684142	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50684142G>T	uc003bkg.2	-	19	2321	c.1948C>A	c.(1948-1950)CTG>ATG	p.L650M	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.L376M|HDAC10_uc003bkf.2_Missense_Mutation_p.L376M|HDAC10_uc010hav.2_Missense_Mutation_p.L630M|HDAC10_uc003bkh.2_Missense_Mutation_p.L443M|HDAC10_uc003bki.2_Missense_Mutation_p.L600M|HDAC10_uc003bkj.2_RNA	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	650					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTCTCAGGTACATCAGG	0.657												
RABL2B	11158	broad.mit.edu	37	22	51214269	51214269	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:51214269G>A	uc003bno.1	-	5	444	c.228C>T	c.(226-228)GAC>GAT	p.D76D	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Silent_p.D76D|RABL2B_uc011asf.1_Silent_p.D76D|RABL2B_uc003bnn.1_Silent_p.D76D|RABL2B_uc003bnk.1_Silent_p.D76D|RABL2B_uc011asg.1_Silent_p.D76D|RABL2B_uc003bnl.1_Silent_p.D76D|RABL2B_uc011ash.1_RNA	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	76	GTP (By similarity).				small GTPase mediated signal transduction		GTP binding|GTPase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGCCGTGTCCCAAAAGT	0.552												
CHL1	10752	broad.mit.edu	37	3	436506	436506	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:436506G>T	uc003bou.2	+	23	3268	c.2997G>T	c.(2995-2997)CAG>CAT	p.Q999H	CHL1_uc003bot.2_Missense_Mutation_p.Q1015H|CHL1_uc003bow.1_Missense_Mutation_p.Q999H|CHL1_uc011asi.1_Missense_Mutation_p.Q1015H	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	999	Fibronectin type-III 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCACTTCACAGGGCTGTGGAA	0.438												
LRRN1	57633	broad.mit.edu	37	3	3888033	3888033	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:3888033T>C	uc003bpt.3	+	2	2469	c.1708T>C	c.(1708-1710)TAT>CAT	p.Y570H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	570	Fibronectin type-III.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCACATAACATATACTGCCAG	0.428												
THUMPD3	25917	broad.mit.edu	37	3	9426301	9426301	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:9426301A>G	uc003bro.3	+	10	1601	c.1453A>G	c.(1453-1455)ACA>GCA	p.T485A	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.T485A	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	485							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TCTGATACGTACACCTCAAGC	0.453												
CAND2	23066	broad.mit.edu	37	3	12856866	12856866	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:12856866G>T	uc003bxk.2	+	8	1282	c.1233G>T	c.(1231-1233)AAG>AAT	p.K411N	CAND2_uc003bxj.2_Missense_Mutation_p.K318N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	411					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						AGCCCCCGAAGGGATGGCTGG	0.617												
HDAC11	79885	broad.mit.edu	37	3	13546059	13546059	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:13546059G>A	uc003bxy.2	+	10	1053	c.920G>A	c.(919-921)CGC>CAC	p.R307H	HDAC11_uc010heb.2_3'UTR|HDAC11_uc011aux.1_Missense_Mutation_p.R115H|HDAC11_uc011auy.1_Missense_Mutation_p.R256H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	307	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						TACCAGAAGCGCACAGCCCGC	0.607												
FBLN2	2199	broad.mit.edu	37	3	13612417	13612417	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:13612417G>A	uc011avb.1	+	2	687	c.562G>A	c.(562-564)GAC>AAC	p.D188N	FBLN2_uc011auz.1_Missense_Mutation_p.D214N|FBLN2_uc011ava.1_Missense_Mutation_p.D188N|FBLN2_uc011avc.1_Missense_Mutation_p.D188N	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	188	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGAGGAGGGTGACCCCGAGCG	0.672												
GRIP2	80852	broad.mit.edu	37	3	14563212	14563212	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:14563212C>A	uc011avi.1	-	8	940	c.940G>T	c.(940-942)GCC>TCC	p.A314S	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	217	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CGCAGGGTGGCCAGGGCGGTG	0.662												
SATB1	6304	broad.mit.edu	37	3	18393520	18393520	+	Silent	SNP	C	C	T	rs147456964	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:18393520C>T	uc003cbh.2	-	10	3478	c.1743G>A	c.(1741-1743)CCG>CCA	p.P581P	SATB1_uc003cbi.2_Silent_p.P581P|SATB1_uc003cbj.2_Silent_p.P581P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	581					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TAATGTGGGGCGGCCTGTCGC	0.473												
SLC4A7	9497	broad.mit.edu	37	3	27460061	27460061	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:27460061T>A	uc003cdv.2	-	11	1619	c.1548A>T	c.(1546-1548)GAA>GAT	p.E516D	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E397D|SLC4A7_uc011aww.1_Missense_Mutation_p.E525D|SLC4A7_uc011awx.1_Missense_Mutation_p.E512D|SLC4A7_uc011awy.1_Missense_Mutation_p.E508D|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E397D|SLC4A7_uc011axb.1_Missense_Mutation_p.E512D|SLC4A7_uc010hfl.2_Missense_Mutation_p.E66D|SLC4A7_uc003cdw.2_Missense_Mutation_p.E392D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	516	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						GATCTAAAAATTCATCAATTC	0.353												
DYNC1LI1	51143	broad.mit.edu	37	3	32574559	32574559	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:32574559T>C	uc003cfb.3	-	8	1087	c.999A>G	c.(997-999)ATA>ATG	p.I333M	DYNC1LI1_uc011axh.1_Missense_Mutation_p.I217M	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	333					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						GTAATATTCCTATTTTCTTAT	0.294												
STAC	6769	broad.mit.edu	37	3	36534721	36534721	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36534721G>T	uc003cgh.1	+	6	805	c.766G>T	c.(766-768)GTG>TTG	p.V256L	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.V195L	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	256					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CAGCAACAGCGGTGAGTGAGG	0.532												
DCLK3	85443	broad.mit.edu	37	3	36779171	36779171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36779171G>A	uc003cgi.2	-	2	1471	c.980C>T	c.(979-981)ACG>ATG	p.T327M		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	327						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TTCTGGCCTCGTCTTGGGCTC	0.552												
TRANK1	9881	broad.mit.edu	37	3	36872364	36872364	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36872364C>T	uc003cgj.2	-	12	7230	c.6928G>A	c.(6928-6930)GCG>ACG	p.A2310T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2860					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGACCCTTACCGCCAGCCCAG	0.577												
PLCD1	5333	broad.mit.edu	37	3	38051523	38051523	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38051523G>A	uc003chn.2	-	8	1283	c.1159C>T	c.(1159-1161)CTA>TTA	p.L387L	PLCD1_uc003chm.2_Silent_p.L408L	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCCAGGGATAGGATGACAGGG	0.647												
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38781010C>T	uc003ciq.2	-	14	2276	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	759	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTACCAAGCGGAAGCTCCG	0.547												
PLXNB1	5364	broad.mit.edu	37	3	48455445	48455445	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:48455445C>A	uc003csw.2	-	22	4515	c.4245G>T	c.(4243-4245)GAG>GAT	p.E1415D	PLXNB1_uc003cst.2_Translation_Start_Site|PLXNB1_uc003csu.2_Missense_Mutation_p.E1232D|PLXNB1_uc003csx.2_Missense_Mutation_p.E1415D|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1415	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGCCACCACCTCCTCCTTGG	0.627												
RBM5	10181	broad.mit.edu	37	3	50129622	50129622	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:50129622G>A	uc003cyg.2	+	3	312	c.164G>A	c.(163-165)CGA>CAA	p.R55Q	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R55Q|RBM5_uc011bdj.1_Missense_Mutation_p.E33K|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	55					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGACTACCGAGACTATGAC	0.468												
NAT6	24142	broad.mit.edu	37	3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:50334626C>T	uc003czi.2	-	2	372	c.269G>A	c.(268-270)CGC>CAC	p.R90H	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R112H|NAT6_uc003czk.3_Missense_Mutation_p.R90H|NAT6_uc003czl.1_Missense_Mutation_p.R90H	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	90	N-acetyltransferase.					cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647												
GRM2	2912	broad.mit.edu	37	3	51743432	51743432	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51743432A>G	uc010hlv.2	+	2	672	c.433A>G	c.(433-435)AGT>GGT	p.S145G	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	145	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGGTTCCTACAGTGATGTCTC	0.597												
GRM2	2912	broad.mit.edu	37	3	51747011	51747011	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51747011A>G	uc010hlv.2	+	3	1212	c.973A>G	c.(973-975)AGT>GGT	p.S325G	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	325	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTACCCCATCAGTGACTTTGC	0.622												
RRP9	9136	broad.mit.edu	37	3	51969657	51969657	+	Missense_Mutation	SNP	G	G	A	rs140029162	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51969657G>A	uc003dbw.1	-	9	826	c.787C>T	c.(787-789)CGC>TGC	p.R263C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	263	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602												
DNAH1	25981	broad.mit.edu	37	3	52425268	52425268	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52425268G>A	uc011bef.1	+	62	10076	c.9815G>A	c.(9814-9816)CGC>CAC	p.R3272H	DNAH1_uc003ddv.2_Missense_Mutation_p.R130H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3337	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACGCCATCCGCTTTGGCAAG	0.587												
BAP1	8314	broad.mit.edu	37	3	52443937	52443937	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52443937C>A	uc003ddx.2	-	1	73	c.-42G>T	c.(-44--40)GAGGG>GATGG		PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1						monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGGCCCTCCCTCCCCACCGC	0.756			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
CACNA1D	776	broad.mit.edu	37	3	53845218	53845218	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:53845218G>A	uc003dgv.3	+	48	6434	c.6271G>A	c.(6271-6273)GCC>ACC	p.A2091T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A2111T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A2067T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A1758T|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2091	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AATCGCTGATGCCTGTGACCT	0.552												
PXK	54899	broad.mit.edu	37	3	58410518	58410518	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:58410518C>A	uc003djz.1	+	18	1667	c.1568C>A	c.(1567-1569)CCA>CAA	p.P523Q	PXK_uc003dka.1_3'UTR|PXK_uc003dkb.1_Missense_Mutation_p.P440Q|PXK_uc003dkc.1_Silent_p.T516T|PXK_uc011bfe.1_3'UTR|PXK_uc010hnj.1_Missense_Mutation_p.P490Q|PXK_uc003dkd.1_Missense_Mutation_p.P386Q|PXK_uc010hnk.1_Missense_Mutation_p.P297Q	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	523					cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCTCCACCACCACCAGCAGCT	0.612												
MAGI1	9223	broad.mit.edu	37	3	65415259	65415259	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:65415259T>G	uc003dmn.2	-	12	2629	c.2103A>C	c.(2101-2103)CAA>CAC	p.Q701H	MAGI1_uc003dmm.2_Missense_Mutation_p.Q701H|MAGI1_uc003dmo.2_Missense_Mutation_p.Q701H|MAGI1_uc003dmp.2_Missense_Mutation_p.Q701H|MAGI1_uc010hny.2_Missense_Mutation_p.Q586H	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	701	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TATCCACCACTTGGTTGTGAG	0.448												
MITF	4286	broad.mit.edu	37	3	70008489	70008489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:70008489G>A	uc003dnz.2	+	9	1195	c.1079G>A	c.(1078-1080)CGA>CAA	p.R360Q	MITF_uc011bgb.1_Missense_Mutation_p.R308Q|MITF_uc003doa.2_Missense_Mutation_p.R359Q|MITF_uc003dob.2_Missense_Mutation_p.R344Q|MITF_uc003dod.2_Missense_Mutation_p.R335Q|MITF_uc003doe.2_Missense_Mutation_p.R253Q|MITF_uc003dof.2_Missense_Mutation_p.R259Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	366					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AAGTTGCAACGAGAACAGCAA	0.458			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
FILIP1L	11259	broad.mit.edu	37	3	99568682	99568682	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:99568682T>A	uc003dtm.2	-	5	2301	c.1838A>T	c.(1837-1839)AAA>ATA	p.K613I	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K613I|FILIP1L_uc010hpf.2_Missense_Mutation_p.K189I|FILIP1L_uc010hpg.2_Missense_Mutation_p.K373I|FILIP1L_uc003dtn.2_Missense_Mutation_p.K373I|FILIP1L_uc003dtp.1_Missense_Mutation_p.K373I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	613	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TGTTGTGGATTTCCCAGAGTC	0.353												
TBC1D23	55773	broad.mit.edu	37	3	100020960	100020960	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:100020960A>G	uc003dtt.2	+	11	1319	c.1142A>G	c.(1141-1143)GAA>GGA	p.E381G	TBC1D23_uc003dts.2_Missense_Mutation_p.E381G	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	381	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						TCCTTGCTGGAAGCACAGAAG	0.428												
NIT2	56954	broad.mit.edu	37	3	100071247	100071247	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:100071247G>A	uc003dtv.2	+	8	659	c.585_splice	c.e8-1	p.R195_splice		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2						nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						ATTGACTACAGGGCTGTTGAT	0.443												
ZBTB11	27107	broad.mit.edu	37	3	101389993	101389993	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:101389993C>A	uc003dve.3	-	3	989	c.759G>T	c.(757-759)GAG>GAT	p.E253D	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	253	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCACCACAGCCTCATGACTGG	0.388												
SLC35A5	55032	broad.mit.edu	37	3	112299461	112299461	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:112299461C>T	uc003dze.2	+	6	742	c.497C>T	c.(496-498)GCC>GTC	p.A166V		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	166	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						GCCTTGACTGCCGGGACTAAA	0.438												
SLC35A5	55032	broad.mit.edu	37	3	112300135	112300135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:112300135C>T	uc003dze.2	+	6	1416	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	391						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						AGAAAGGATCCGAGATCTAAG	0.423												
FSTL1	11167	broad.mit.edu	37	3	120121742	120121742	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:120121742A>G	uc003eds.2	-	9	893	c.718T>C	c.(718-720)TAT>CAT	p.Y240H	FSTL1_uc011bjh.1_Missense_Mutation_p.Y205H	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	240	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		CCATCTGCATACGTTTCATCC	0.542												
FBXO40	51725	broad.mit.edu	37	3	121341390	121341390	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:121341390C>T	uc003eeg.2	+	3	1324	c.1114C>T	c.(1114-1116)CCA>TCA	p.P372S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	372					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GAGTTGTAAGCCAAGTGAACA	0.493												
SEMA5B	54437	broad.mit.edu	37	3	122632217	122632217	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632217A>G	uc003efz.1	-	17	2639	c.2335T>C	c.(2335-2337)TGG>CGG	p.W779R	SEMA5B_uc011bju.1_Missense_Mutation_p.W721R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.W779R|SEMA5B_uc010hro.1_Missense_Mutation_p.W721R|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	779	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CACGGCGTCCAGGGGGTGTTG	0.716												
SEMA5B	54437	broad.mit.edu	37	3	122632729	122632729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632729C>T	uc003efz.1	-	15	2412	c.2108G>A	c.(2107-2109)TGC>TAC	p.C703Y	SEMA5B_uc011bju.1_Missense_Mutation_p.C645Y|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.C703Y|SEMA5B_uc010hro.1_Missense_Mutation_p.C645Y|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	703	Extracellular (Potential).|TSP type-1 1.			C -> F (in Ref. 2; AAQ88491).	cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CTTGCCCACGCAGATGCGGCC	0.657												
SEMA5B	54437	broad.mit.edu	37	3	122632812	122632812	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632812C>A	uc003efz.1	-	15	2329	c.2025G>T	c.(2023-2025)CTG>CTT	p.L675L	SEMA5B_uc011bju.1_Silent_p.L617L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L675L|SEMA5B_uc010hro.1_Silent_p.L617L|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	675	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		ACGTGCTGCACAGCGCCCACG	0.667												
PDIA5	10954	broad.mit.edu	37	3	122864994	122864994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122864994G>A	uc003egc.1	+	13	1086	c.1030G>A	c.(1030-1032)GCA>ACA	p.A344T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	344	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		CAAGGCCCTGGCAGAAAGATT	0.502												
ADCY5	111	broad.mit.edu	37	3	123021992	123021992	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:123021992C>T	uc003egh.1	-	14	2634	c.2634G>A	c.(2632-2634)GCG>GCA	p.A878A	ADCY5_uc003egg.1_Silent_p.A511A|ADCY5_uc003egi.1_Silent_p.A437A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	878	Extracellular (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CCACGTGACACGCGTTGACCT	0.642												
KALRN	8997	broad.mit.edu	37	3	124209614	124209614	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:124209614G>A	uc003ehg.2	+	30	4591	c.4464G>A	c.(4462-4464)TCG>TCA	p.S1488S	KALRN_uc010hrv.1_Silent_p.S1479S|KALRN_uc003ehf.1_Silent_p.S1488S|KALRN_uc011bjy.1_Silent_p.S1479S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1488	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ACCCGAAGTCGCTGATCCGGA	0.502												
PLXNA1	5361	broad.mit.edu	37	3	126741039	126741039	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:126741039C>T	uc003ejg.2	+	21	4085	c.4081C>T	c.(4081-4083)CGC>TGC	p.R1361C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1384	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTTCTCCATGCGCGACCGCGG	0.612												
PLXNA1	5361	broad.mit.edu	37	3	126751418	126751418	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:126751418C>T	uc003ejg.2	+	29	5355	c.5351C>T	c.(5350-5352)CCC>CTC	p.P1784L	PLXNA1_uc003ejh.2_Missense_Mutation_p.P452L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1807	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AAGGACATCCCCAACTACAAG	0.647												
PODXL2	50512	broad.mit.edu	37	3	127390358	127390358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:127390358G>A	uc003ejq.2	+	7	1531	c.1507G>A	c.(1507-1509)GTG>ATG	p.V503M	ABTB1_uc003ejr.2_5'Flank|ABTB1_uc003ejs.2_5'Flank|ABTB1_uc003ejt.2_5'Flank|ABTB1_uc003eju.2_5'Flank	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	503	Helical; (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CACGCTCTTCGTGGTGCTGGT	0.627												
EEFSEC	60678	broad.mit.edu	37	3	128126962	128126962	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:128126962C>T	uc003eki.2	+	7	1689	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W	EEFSEC_uc003ekj.2_3'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	551	Nuclear localization signal (Potential).					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CCTCAAGAAGCGGGCCCGGGC	0.657												
GP9	2815	broad.mit.edu	37	3	128780857	128780857	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:128780857G>A	uc003elm.2	+	3	462	c.275G>A	c.(274-276)AGC>AAC	p.S92N		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	92	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	TGTGACTGCAGCCTCACCTAT	0.692												
COL6A6	131873	broad.mit.edu	37	3	130287203	130287203	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:130287203G>A	uc010htl.2	+	5	2187	c.2156G>A	c.(2155-2157)CGG>CAG	p.R719Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	719	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAGGGCGCCCGGCCCAACATC	0.502												
MRPL3	11222	broad.mit.edu	37	3	131206557	131206557	+	Missense_Mutation	SNP	C	C	T	rs143919720		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:131206557C>T	uc003eoh.2	-	6	760	c.596G>A	c.(595-597)CGT>CAT	p.R199H	MRPL3_uc011blo.1_Missense_Mutation_p.R94H|MRPL3_uc011blp.1_Missense_Mutation_p.R226H	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	199					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CTGTCCTGGACGAAAGTGAGC	0.343												
DNAJC13	23317	broad.mit.edu	37	3	132184898	132184898	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:132184898T>C	uc003eor.2	+	18	2017	c.1952T>C	c.(1951-1953)TTG>TCG	p.L651S	DNAJC13_uc010htq.1_Missense_Mutation_p.L651S	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	651							heat shock protein binding			ovary(1)|breast(1)	2						GCAACAAACTTGTTGAAACGC	0.358												
TF	7018	broad.mit.edu	37	3	133475800	133475800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:133475800C>T	uc003epu.1	+	12	2545	c.817C>T	c.(817-819)CGA>TGA	p.R273*	TF_uc011blt.1_Nonsense_Mutation_p.R146*|TF_uc003epw.1_Intron|TF_uc003epv.1_Nonsense_Mutation_p.R273*	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	273	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CGTCGTGGCCCGAAGTATGGG	0.592												
SR140	23350	broad.mit.edu	37	3	142741774	142741774	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:142741774G>A	uc003evh.1	+	12	1197	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Silent_p.P366P|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.P365P|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	366	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						TATACATTCCGCCTTCTATGA	0.423												
WDR49	151790	broad.mit.edu	37	3	167319962	167319962	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:167319962G>T	uc003fev.1	-	3	511	c.205C>A	c.(205-207)CAA>AAA	p.Q69K	WDR49_uc011bpd.1_Missense_Mutation_p.Q122K|WDR49_uc003few.1_Missense_Mutation_p.Q410K	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	69	WD 2.									large_intestine(1)|ovary(1)|skin(1)	3						ACAAAGAATTGGACGGCTATT	0.403												
GPR160	26996	broad.mit.edu	37	3	169802628	169802628	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:169802628A>G	uc003fgi.2	+	4	1458	c.868A>G	c.(868-870)ACA>GCA	p.T290A	GPR160_uc010hwq.2_Missense_Mutation_p.T290A	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	290	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTCATTGCTACAGTGTATTG	0.328												
TNIK	23043	broad.mit.edu	37	3	170857277	170857277	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:170857277A>G	uc003fhh.2	-	14	1746	c.1401T>C	c.(1399-1401)CAT>CAC	p.H467H	TNIK_uc003fhi.2_Silent_p.H467H|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Silent_p.H467H|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Silent_p.H467H|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	467	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGCTTGTTCATGCAGTAGCT	0.408												
PLD1	5337	broad.mit.edu	37	3	171320972	171320972	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:171320972G>A	uc003fhs.2	-	27	3237	c.3121C>T	c.(3121-3123)CGT>TGT	p.R1041C	PLD1_uc003fht.2_Missense_Mutation_p.R1003C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	1041					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAAAATCCACGGATCTTCTTC	0.438												
SPATA16	83893	broad.mit.edu	37	3	172834946	172834946	+	Silent	SNP	G	G	A	rs146363552		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:172834946G>A	uc003fin.3	-	2	734	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	192					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGCCAAGGCGTATTTCTTTT	0.403												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
HTR3E	285242	broad.mit.edu	37	3	183823105	183823105	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:183823105G>A	uc010hxq.2	+	6	1076	c.610G>A	c.(610-612)GCA>ACA	p.A204T	HTR3E_uc003fml.3_Missense_Mutation_p.A189T|HTR3E_uc003fmm.2_Missense_Mutation_p.A219T|HTR3E_uc010hxr.2_Missense_Mutation_p.A230T|HTR3E_uc003fmn.2_Missense_Mutation_p.A204T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	204	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATAACAGACGCATCCCGGAA	0.493												
ABCF3	55324	broad.mit.edu	37	3	183905683	183905683	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:183905683A>G	uc003fmz.2	+	6	614	c.481A>G	c.(481-483)AGC>GGC	p.S161G	ABCF3_uc003fna.2_Missense_Mutation_p.S155G|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	161							ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGGCAGGCAGCAGAAAGGA	0.488												
EIF4G1	1981	broad.mit.edu	37	3	184045702	184045702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:184045702C>T	uc003fnp.2	+	26	4063	c.3865C>T	c.(3865-3867)CGC>TGC	p.R1289C	EIF4G1_uc003fnt.2_Missense_Mutation_p.R1000C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R1202C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R1125C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fns.2_Missense_Mutation_p.R1249C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R1290C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R1289C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R1094C|EIF4G1_uc003fny.3_Missense_Mutation_p.R1093C|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1289	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACGCTGGAGCGCAGTGCCAT	0.597												
THPO	7066	broad.mit.edu	37	3	184093761	184093761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:184093761G>A	uc003fol.1	-	3	271	c.56C>T	c.(55-57)ACG>ATG	p.T19M	THPO_uc003fom.1_Missense_Mutation_p.T19M|THPO_uc003fon.2_Missense_Mutation_p.T19M|THPO_uc011bro.1_Missense_Mutation_p.T19M|THPO_uc003fop.2_Missense_Mutation_p.T19M|THPO_uc011brp.1_Missense_Mutation_p.T19M|THPO_uc011brq.1_Missense_Mutation_p.T19M|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.T19M|THPO_uc003fou.1_Missense_Mutation_p.T19M	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	19					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGGACAGCGTTAGCCTTGC	0.517												
MAP3K13	9175	broad.mit.edu	37	3	185198156	185198156	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:185198156C>T	uc010hyf.2	+	14	2904	c.2638C>T	c.(2638-2640)CGC>TGC	p.R880C	MAP3K13_uc011brt.1_Missense_Mutation_p.R673C|MAP3K13_uc011bru.1_Missense_Mutation_p.R736C|MAP3K13_uc003fpi.2_Missense_Mutation_p.R880C|MAP3K13_uc010hyg.2_Missense_Mutation_p.R570C	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	880					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACTTGAAGACCGCTTGGCAGA	0.493												
EIF4A2	1974	broad.mit.edu	37	3	186504345	186504345	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:186504345T>A	uc003fqs.2	+	7	721	c.682T>A	c.(682-684)TTC>ATC	p.F228I	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.F229I|EIF4A2_uc003fqv.2_Missense_Mutation_p.F133I|EIF4A2_uc003fqw.2_Missense_Mutation_p.F133I|EIF4A2_uc011bsb.1_Missense_Mutation_p.F101I|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	228	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GACCAAAAAATTCATGAGAGA	0.353			T	BCL6	NHL							
C3orf21	152002	broad.mit.edu	37	3	194790465	194790465	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:194790465G>A	uc003fum.3	-	4	1269	c.1161C>T	c.(1159-1161)AAC>AAT	p.N387N	C3orf21_uc003ful.2_Silent_p.N184N|C3orf21_uc003fuk.2_Silent_p.N181N	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	387						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GGATGGGAGTGTTGCAGTTCC	0.632												
TFRC	7037	broad.mit.edu	37	3	195800860	195800860	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:195800860A>G	uc003fvz.3	-	4	658	c.375T>C	c.(373-375)GAT>GAC	p.D125D	TFRC_uc003fwa.3_Silent_p.D125D|TFRC_uc010hzy.2_Silent_p.D44D|TFRC_uc011btr.1_Intron	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	125	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCTTCAGGTCATCCCAATATA	0.512			T	BCL6	NHL						OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PIGZ	80235	broad.mit.edu	37	3	196675210	196675210	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:196675210C>T	uc003fxh.2	-	3	705	c.558G>A	c.(556-558)ACG>ACA	p.T186T		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	186	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CCAGCAGCCACGTGAAGAGGA	0.622												
LRCH3	84859	broad.mit.edu	37	3	197553754	197553754	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:197553754G>A	uc011bul.1	+	5	651	c.646G>A	c.(646-648)GCG>ACG	p.A216T	LRCH3_uc003fyj.1_Missense_Mutation_p.A216T|LRCH3_uc011bum.1_Missense_Mutation_p.A216T|LRCH3_uc011bun.1_Missense_Mutation_p.A90T|LRCH3_uc003fyk.2_5'Flank	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	216	LRR 6.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGCAGAGCTGGCGGAGTTGCC	0.368												
CRIPAK	285464	broad.mit.edu	37	4	1388513	1388513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:1388513G>A	uc003gdf.2	+	1	3174	c.214G>A	c.(214-216)GTG>ATG	p.V72M		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	72					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGTCCATGTGGAGTGCCC	0.637												
RGS12	6002	broad.mit.edu	37	4	3417807	3417807	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3417807C>T	uc003ggw.2	+	7	3290	c.2386C>T	c.(2386-2388)CGC>TGC	p.R796C	RGS12_uc003ggu.2_Missense_Mutation_p.R796C|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R796C|RGS12_uc003ggy.1_Missense_Mutation_p.R194C|RGS12_uc010ict.1_Missense_Mutation_p.R148C|RGS12_uc003ggz.2_Missense_Mutation_p.R148C|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Missense_Mutation_p.R138C|RGS12_uc003gha.2_Missense_Mutation_p.R138C|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	796	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGACGTCCTCCGCGCACCTCA	0.607												
HGFAC	3083	broad.mit.edu	37	4	3444828	3444828	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3444828G>A	uc003ghc.2	+	3	353	c.350G>A	c.(349-351)CGC>CAC	p.R117H	HGFAC_uc010icw.2_Missense_Mutation_p.R117H	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	117	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGGGGCCGCATGCTGCAT	0.721												
HGFAC	3083	broad.mit.edu	37	4	3446081	3446081	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3446081C>T	uc003ghc.2	+	6	645	c.642C>T	c.(640-642)GGC>GGT	p.G214G	HGFAC_uc010icw.2_Silent_p.G214G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	214	Fibronectin type-I.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGAGGGGGGCGACCGCTGGG	0.682												
EVC	2121	broad.mit.edu	37	4	5731072	5731072	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5731072C>T	uc003gil.1	+	3	523	c.339C>T	c.(337-339)TTC>TTT	p.F113F	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	113					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483												
EVC	2121	broad.mit.edu	37	4	5798754	5798754	+	Missense_Mutation	SNP	C	C	T	rs139481521	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5798754C>T	uc003gil.1	+	14	2076	c.1892C>T	c.(1891-1893)ACG>ATG	p.T631M	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	631					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CAAAGGTCCACGCGGTGTGTC	0.647												
EVC	2121	broad.mit.edu	37	4	5798841	5798841	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5798841C>T	uc003gil.1	+	14	2163	c.1979C>T	c.(1978-1980)ACG>ATG	p.T660M	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	660					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GCCACCCTGACGCAGATGCGG	0.672												
WFS1	7466	broad.mit.edu	37	4	6303072	6303072	+	Missense_Mutation	SNP	G	G	A	rs150394063	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6303072G>A	uc003giy.2	+	8	1716	c.1550G>A	c.(1549-1551)CGC>CAC	p.R517H	WFS1_uc003gix.2_Missense_Mutation_p.R517H|WFS1_uc003giz.2_Missense_Mutation_p.R335H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	517					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CTCTTCTTCCGCATGGCACAG	0.577												
PPP2R2C	5522	broad.mit.edu	37	4	6325199	6325199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6325199G>A	uc003gjc.2	-	9	1544	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	PPP2R2C_uc003gjb.2_Missense_Mutation_p.R375C|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R385C|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R385C|PPP2R2C_uc003gja.2_Missense_Mutation_p.R392C	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	392					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						ACGCACACGCGCCGTGGCTTG	0.627												
CNO	55330	broad.mit.edu	37	4	6718567	6718567	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6718567T>C	uc003gjp.1	+	1	726	c.631T>C	c.(631-633)TGC>CGC	p.C211R		NM_018366	NP_060836	Q9NUP1	CNO_HUMAN	cappuccino	211					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol					0				Colorectal(103;0.0523)		CTTCCCTTGTTGCAGTGAAAG	0.577												
SORCS2	57537	broad.mit.edu	37	4	7398081	7398081	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:7398081C>T	uc003gkb.3	+	2	547	c.547C>T	c.(547-549)CGG>TGG	p.R183W	SORCS2_uc011bwi.1_Missense_Mutation_p.R11W	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	183	BNR 1.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						TTCTCTGTGGCGGTAAGTCAG	0.522												
AFAP1	60312	broad.mit.edu	37	4	7770639	7770639	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:7770639C>T	uc003gkg.1	-	16	2371	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	AFAP1_uc011bwk.1_Missense_Mutation_p.V784I|LOC84740_uc003gkd.3_Intron	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	700						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TTCTTCAAGACGGCCGCGCTG	0.657												
ABLIM2	84448	broad.mit.edu	37	4	8037979	8037979	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:8037979G>A	uc003gko.2	-	10	1087	c.944C>T	c.(943-945)GCC>GTC	p.A315V	ABLIM2_uc003gkl.2_Missense_Mutation_p.A65V|ABLIM2_uc003gkj.3_Missense_Mutation_p.A315V|ABLIM2_uc003gkm.3_Missense_Mutation_p.A315V|ABLIM2_uc003gkp.2_Missense_Mutation_p.A315V|ABLIM2_uc003gkq.2_Missense_Mutation_p.A315V|ABLIM2_uc003gkr.2_Missense_Mutation_p.A315V|ABLIM2_uc003gks.3_Missense_Mutation_p.A315V|ABLIM2_uc011bwl.1_Missense_Mutation_p.A320V	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	315					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						TTTAGGAAGGGCTGCCAAGTC	0.577												
NCAPG	64151	broad.mit.edu	37	4	17835966	17835966	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:17835966G>T	uc003gpp.2	+	14	2105	c.1929G>T	c.(1927-1929)AAG>AAT	p.K643N	NCAPG_uc011bxj.1_Missense_Mutation_p.K152N	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	643	HEAT 8.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		GTGCTTTAAAGGCAATCTTTG	0.308												
SLIT2	9353	broad.mit.edu	37	4	20597433	20597433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:20597433C>T	uc003gpr.1	+	31	3500	c.3296C>T	c.(3295-3297)ACG>ATG	p.T1099M	SLIT2_uc003gps.1_Missense_Mutation_p.T1091M	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1099	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						AACGGCTATACGTGCATATGC	0.338												
GABRA2	2555	broad.mit.edu	37	4	46263976	46263976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:46263976C>T	uc003gxc.3	-	8	1699	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	GABRA2_uc010igc.2_Nonsense_Mutation_p.W342*|GABRA2_uc011bzc.1_Nonsense_Mutation_p.W287*|GABRA2_uc003gxe.2_Nonsense_Mutation_p.W342*	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	342	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCCCAAGCCCATCCTCTTT	0.383												
ATP10D	57205	broad.mit.edu	37	4	47517633	47517633	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:47517633G>A	uc003gxk.1	+	3	595	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	ATP10D_uc003gxj.3_Missense_Mutation_p.R144Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	144	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GAAGATTATCGGAAATACAAA	0.363												
SPATA18	132671	broad.mit.edu	37	4	52943101	52943101	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:52943101G>A	uc003gzl.2	+	7	1193	c.915G>A	c.(913-915)CGG>CGA	p.R305R	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Silent_p.R273R|SPATA18_uc003gzk.1_Silent_p.R305R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	305	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTTGTCCCGGTTCAGCGATT	0.637												
YTHDC1	91746	broad.mit.edu	37	4	69202929	69202929	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:69202929C>T	uc003hdx.2	-	4	1052	c.699G>A	c.(697-699)GAG>GAA	p.E233E	YTHDC1_uc003hdy.2_Silent_p.E233E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	233	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						cctcctcttcctcctcctcct	0.109												
ADAMTS3	9508	broad.mit.edu	37	4	73148871	73148871	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:73148871T>C	uc003hgk.1	-	22	3637	c.3600A>G	c.(3598-3600)TCA>TCG	p.S1200S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1200					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAGGTGGATGATCTTGTCG	0.428												
ALB	213	broad.mit.edu	37	4	74279156	74279156	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:74279156T>A	uc003hgs.3	+	8	936	c.863T>A	c.(862-864)ATC>AAC	p.I288N	ALB_uc003hgw.3_Missense_Mutation_p.I96N|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.I288N|ALB_uc010iii.2_Missense_Mutation_p.I173N|ALB_uc003hgu.3_Missense_Mutation_p.I138N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.I178N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	288	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCCAAGTATATCTGTGAAAAT	0.403												
BTC	685	broad.mit.edu	37	4	75695292	75695292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:75695292C>A	uc003hig.2	-	2	486	c.139G>T	c.(139-141)GGA>TGA	p.G47*		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	47	Extracellular (Potential).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			TCAGGGTCTCCACAGAGGAGG	0.368												
PARM1	25849	broad.mit.edu	37	4	75937773	75937773	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:75937773A>G	uc003hih.1	+	2	422	c.182A>G	c.(181-183)CAC>CGC	p.H61R		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	61	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						AACGGCACTCACAACAACTCG	0.512												
SHROOM3	57619	broad.mit.edu	37	4	77661497	77661497	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:77661497G>A	uc011cbx.1	+	5	3124	c.2171G>A	c.(2170-2172)CGG>CAG	p.R724Q	SHROOM3_uc011cbz.1_Missense_Mutation_p.R548Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R599Q|SHROOM3_uc003hkg.2_Missense_Mutation_p.R502Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	724					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TCCTACCCGCGGCCCGAGGGG	0.667												
LIN54	132660	broad.mit.edu	37	4	83849453	83849453	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:83849453C>T	uc003hnx.3	-	13	2430	c.2052G>A	c.(2050-2052)TTG>TTA	p.L684L	LIN54_uc003hnz.3_Silent_p.L463L|LIN54_uc003hny.3_Silent_p.L283L|LIN54_uc010ijt.2_Silent_p.L595L|LIN54_uc010iju.2_Silent_p.L283L|LIN54_uc010ijv.2_Silent_p.L463L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	684					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				ATGTAAATGGCAATCTGAAAT	0.393												
HERC5	51191	broad.mit.edu	37	4	89414248	89414248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:89414248C>T	uc003hrt.2	+	17	2372	c.2219C>T	c.(2218-2220)CCG>CTG	p.P740L	HERC5_uc011cdm.1_Missense_Mutation_p.P378L	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	740	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATGATCCAGCCGGAATATGGG	0.448												
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:96761854G>A	uc003htr.3	+	1	616	c.553G>A	c.(553-555)GAT>AAT	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483												
DKK2	27123	broad.mit.edu	37	4	107956720	107956720	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:107956720G>A	uc003hyi.2	-	1	734	c.29C>T	c.(28-30)TCG>TTG	p.S10L	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S10L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	10					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGCAGGACGAATCCTTGCT	0.642												
ALPK1	80216	broad.mit.edu	37	4	113351602	113351602	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:113351602A>G	uc003iap.3	+	11	1180	c.901_splice	c.e11-2	p.N301_splice	ALPK1_uc003ian.3_Splice_Site_p.N301_splice|ALPK1_uc011cfx.1_Splice_Site_p.N223_splice|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Splice_Site_p.N129_splice	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1								ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TATTTTTCCCAGAATATCCGT	0.363												
ANK2	287	broad.mit.edu	37	4	114213628	114213628	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:114213628C>T	uc003ibe.3	+	21	2434	c.2334C>T	c.(2332-2334)AAC>AAT	p.N778N	ANK2_uc003ibd.3_Silent_p.N757N|ANK2_uc003ibf.3_Silent_p.N778N|ANK2_uc011cgc.1_5'Flank|ANK2_uc003ibc.2_Silent_p.N754N|ANK2_uc011cgb.1_Silent_p.N793N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	778	ANK 23.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACATCATCAACGTCCTGCTCC	0.627												
NR3C2	4306	broad.mit.edu	37	4	149356340	149356340	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:149356340T>G	uc003ilj.3	-	2	2007	c.1673A>C	c.(1672-1674)GAG>GCG	p.E558A	NR3C2_uc003ilk.3_Missense_Mutation_p.E558A|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	558	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCCATGACTCCACTAAAGT	0.428												
FSTL5	56884	broad.mit.edu	37	4	163032485	163032485	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:163032485G>A	uc003iqh.2	-	2	500	c.64C>T	c.(64-66)CCA>TCA	p.P22S	FSTL5_uc003iqi.2_Missense_Mutation_p.P22S|FSTL5_uc010iqv.2_Missense_Mutation_p.P22S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	22						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTTGGTTGGCCTTCCTTCC	0.413												
TMEM192	201931	broad.mit.edu	37	4	166022023	166022023	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:166022023A>G	uc003iqz.3	-	3	295	c.196T>C	c.(196-198)TTT>CTT	p.F66L		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	transmembrane protein 192	66	Helical; (Potential).					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCTGTTAAAAATGCTAAAACA	0.373												
TLL1	7092	broad.mit.edu	37	4	166935620	166935620	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:166935620G>A	uc003irh.1	+	8	1597	c.950G>A	c.(949-951)CGT>CAT	p.R317H	TLL1_uc011cjn.1_Missense_Mutation_p.R317H|TLL1_uc011cjo.1_Missense_Mutation_p.R141H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	317	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R317C(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCCCCTCCCGTGATGATAAT	0.438												
CLCN3	1182	broad.mit.edu	37	4	170613412	170613412	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:170613412G>A	uc003isi.2	+	7	1386	c.877G>A	c.(877-879)GGA>AGA	p.G293R	CLCN3_uc003ish.2_Missense_Mutation_p.G293R|CLCN3_uc011cjz.1_Missense_Mutation_p.G276R|CLCN3_uc011cka.1_Missense_Mutation_p.G293R|CLCN3_uc003isj.1_Missense_Mutation_p.G266R	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	293	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTGTTGCTGCGGAAATATCTT	0.373												
STOX2	56977	broad.mit.edu	37	4	184931728	184931728	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:184931728C>A	uc003ivz.1	+	3	3172	c.1737C>A	c.(1735-1737)CCC>CCA	p.P579P	STOX2_uc003iwa.1_Silent_p.P268P	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	579					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GAAAACCACCCGAGAGTTTGC	0.502												
SORBS2	8470	broad.mit.edu	37	4	186544971	186544971	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:186544971C>T	uc003iyl.2	-	13	2458	c.1600G>A	c.(1600-1602)GTA>ATA	p.V534I	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.V634I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.V438I|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.V648I|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	534						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTAGGGTTACGGGAGACAGC	0.542												
SLC12A7	10723	broad.mit.edu	37	5	1078056	1078056	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:1078056G>A	uc003jbu.2	-	12	1587	c.1521C>T	c.(1519-1521)ATC>ATT	p.I507I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	507	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCGATGACGATGACCCAGG	0.587												
CTNND2	1501	broad.mit.edu	37	5	11346635	11346635	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:11346635C>T	uc003jfa.1	-	9	1622	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	CTNND2_uc010itt.2_Missense_Mutation_p.A402T|CTNND2_uc011cmy.1_Missense_Mutation_p.A156T|CTNND2_uc011cmz.1_Missense_Mutation_p.A60T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A60T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	493					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCTGGGCCGGCGGCATAGCTG	0.647												
FBXL7	23194	broad.mit.edu	37	5	15936592	15936592	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:15936592G>A	uc003jfn.1	+	4	1254	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258	LRR 4.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						AGCTTGACCCGGGAGGCCTCC	0.582												
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:16694613C>T	uc003jft.3	-	27	4135	c.3667G>A	c.(3667-3669)GGG>AGG	p.G1223R	MYO10_uc011cnc.1_Missense_Mutation_p.G102R|MYO10_uc011cnd.1_Missense_Mutation_p.G580R|MYO10_uc011cne.1_Missense_Mutation_p.G580R|MYO10_uc010itx.2_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GAGCCCCCCCCTTTTTTGTGG	0.557												
MYO10	4651	broad.mit.edu	37	5	16701205	16701205	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:16701205G>T	uc003jft.3	-	25	3767	c.3299C>A	c.(3298-3300)GCC>GAC	p.A1100D	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.A457D|MYO10_uc011cne.1_Missense_Mutation_p.A457D|MYO10_uc010itx.2_Missense_Mutation_p.A723D	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1100					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGAAGTGATGGCACCGTCCTC	0.637												
AGXT2	64902	broad.mit.edu	37	5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:34998924C>T	uc003jjf.2	-	14	1524	c.1445G>A	c.(1444-1446)CGC>CAC	p.R482H	AGXT2_uc003jje.1_Missense_Mutation_p.R135H|AGXT2_uc011com.1_Missense_Mutation_p.R407H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368												
SPEF2	79925	broad.mit.edu	37	5	35753739	35753739	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:35753739G>A	uc003jjo.2	+	24	3455	c.3344G>A	c.(3343-3345)CGC>CAC	p.R1115H	SPEF2_uc003jjp.1_Missense_Mutation_p.R601H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1115					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCGAGACCGCCTGTGGGAC	0.478												
CAPSL	133690	broad.mit.edu	37	5	35921187	35921187	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:35921187C>T	uc003jjt.1	-	2	131	c.36G>A	c.(34-36)GCG>GCA	p.A12A	CAPSL_uc003jju.1_Silent_p.A12A	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	12						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGCCTGGATCGCCATCTCTC	0.612												
OSMR	9180	broad.mit.edu	37	5	38869209	38869209	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:38869209C>T	uc003jln.1	+	2	430	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	OSMR_uc003jlm.1_Silent_p.Y21Y	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	21					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					TGAGGACTTACCAGAGTGAAG	0.363												
PTGER4	5734	broad.mit.edu	37	5	40681484	40681484	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:40681484A>G	uc003jlz.2	+	2	981	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	130	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TACAGCCACTACGTGGACAAG	0.577											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C5orf28	64417	broad.mit.edu	37	5	43446519	43446519	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:43446519G>T	uc003jny.2	-	3	596	c.453C>A	c.(451-453)TCC>TCA	p.S151S	C5orf28_uc003jnv.3_Silent_p.S151S|C5orf28_uc003jnx.2_Silent_p.S151S	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	151						integral to membrane					0	Lung NSC(6;2.07e-05)					GTGAAGTCCAGGATATAAATA	0.408												
ITGA1	3672	broad.mit.edu	37	5	52204835	52204835	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:52204835G>T	uc003jou.2	+	13	1615	c.1563G>T	c.(1561-1563)GAG>GAT	p.E521D	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.E52D	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	521	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGAGAAGGAGGAGCAAGGAA	0.388												
SNX18	112574	broad.mit.edu	37	5	53815068	53815068	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:53815068A>G	uc003jpj.3	+	1	1476	c.1286A>G	c.(1285-1287)GAC>GGC	p.D429G	SNX18_uc011cqg.1_Missense_Mutation_p.D429G|SNX18_uc003jpi.3_Missense_Mutation_p.D429G	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	429	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCAAGATCGACGGCTTCAAG	0.612												
DHX29	54505	broad.mit.edu	37	5	54579256	54579256	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:54579256T>C	uc003jpx.2	-	11	1860	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	580							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTCAACAATTGAGTCCCGAT	0.398												
IL31RA	133396	broad.mit.edu	37	5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:55212718C>A	uc003jql.2	+	15	2130	c.2065C>A	c.(2065-2067)CTC>ATC	p.L689I	IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.L547I	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	657	Cytoplasmic (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527												
RGNEF	64283	broad.mit.edu	37	5	73169027	73169027	+	Silent	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:73169027A>C	uc011csq.1	+	21	2781	c.2770A>C	c.(2770-2772)AGG>CGG	p.R924R	RGNEF_uc003kcx.2_Silent_p.R924R|RGNEF_uc010izf.2_Silent_p.R924R|RGNEF_uc011csr.1_Silent_p.R611R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	924	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGGCAGCGACAGGAATTTTGT	0.408												
HEXB	3074	broad.mit.edu	37	5	74011418	74011418	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:74011418A>T	uc003kdf.3	+	8	1102	c.985A>T	c.(985-987)ACA>TCA	p.T329S	HEXB_uc003kdd.2_Missense_Mutation_p.T104S|HEXB_uc010izh.2_RNA|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	329					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TCTGAATACAACATACAGCTT	0.353												
AP3B1	8546	broad.mit.edu	37	5	77523225	77523225	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:77523225A>G	uc003kfj.2	-	5	632	c.507T>C	c.(505-507)AAT>AAC	p.N169N		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	169					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		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)		CATGGGCTGCATTCTTCCTAA	0.373									Hermansky-Pudlak_syndrome			
THBS4	7060	broad.mit.edu	37	5	79368182	79368182	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:79368182C>T	uc003kgh.2	+	15	2125	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	601	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGGGGGATGCCTGTGACAGT	0.448												
RASA1	5921	broad.mit.edu	37	5	86668008	86668008	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:86668008G>A	uc003kiw.2	+	13	1890	c.1772G>A	c.(1771-1773)CGT>CAT	p.R591H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R414H|RASA1_uc011ctv.1_Missense_Mutation_p.R424H|RASA1_uc011ctw.1_Missense_Mutation_p.R425H|RASA1_uc010jaw.2_Missense_Mutation_p.R413H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	591	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAACGCCTTCGTCAGGTGAAG	0.353												
SLCO6A1	133482	broad.mit.edu	37	5	101813379	101813379	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:101813379C>T	uc003knn.2	-	3	974	c.802_splice	c.e3+1	p.G268_splice	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Splice_Site_p.G268_splice|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTAAAACTTGCCTAAATAGAT	0.388												
CAMK4	814	broad.mit.edu	37	5	110819803	110819803	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:110819803A>G	uc011cvj.1	+	12	1160	c.1061A>G	c.(1060-1062)AAG>AGG	p.K354R	CAMK4_uc003kpf.2_Missense_Mutation_p.K354R|CAMK4_uc010jbv.2_Missense_Mutation_p.K157R|CAMK4_uc003kpg.2_Missense_Mutation_p.K45R	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	354					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAGAGCCACAAGGCTAGCCGA	0.567												
KCNN2	3781	broad.mit.edu	37	5	113831789	113831789	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:113831789C>T	uc003kqo.2	+	8	2107	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	KCNN2_uc003kqp.2_Silent_p.H202H|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	550						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACGACAAGCACGTCACTTACA	0.547												
LMNB1	4001	broad.mit.edu	37	5	126156669	126156669	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:126156669C>T	uc003kud.1	+	7	1596	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.R200C	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	410	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TCGTAGTGTACGTACAACTAG	0.448												
MEGF10	84466	broad.mit.edu	37	5	126776486	126776486	+	Silent	SNP	C	C	T	rs151316424		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:126776486C>T	uc003kuh.3	+	19	2651	c.2289C>T	c.(2287-2289)AAC>AAT	p.N763N	MEGF10_uc003kui.3_Silent_p.N763N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	763	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AATGTCAAAACGGAGCTGACT	0.512												
H2AFY	9555	broad.mit.edu	37	5	134724774	134724774	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:134724774G>A	uc003lam.1	-	2	220	c.10C>T	c.(10-12)CGC>TGC	p.R4C	H2AFY_uc003lao.1_Missense_Mutation_p.R4C|H2AFY_uc003lan.1_Missense_Mutation_p.R4C|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.R4C|H2AFY_uc003las.1_Missense_Mutation_p.R4C|H2AFY_uc003lat.1_Missense_Mutation_p.R4C	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	4	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCCACCGCGGCTCGACATG	0.622												
PSD2	84249	broad.mit.edu	37	5	139221925	139221925	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:139221925C>T	uc003leu.1	+	15	2387	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	728					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTGGAGCGGATTGAGGC	0.522												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876372	139876372	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:139876372T>G	uc003lfs.1	+	15	2637	c.2513T>G	c.(2512-2514)CTG>CGG	p.L838R	ANKHD1_uc003lfq.1_Missense_Mutation_p.L857R|ANKHD1_uc003lfr.2_Missense_Mutation_p.L838R|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.L318R|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	838						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAGAACTGCAGAAAGTG	0.373												
PCDHA1	56147	broad.mit.edu	37	5	140166120	140166120	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140166120G>A	uc003lhb.2	+	1	245	c.245G>A	c.(244-246)GGC>GAC	p.G82D	PCDHA1_uc003lha.2_Missense_Mutation_p.G82D|PCDHA1_uc003lgz.2_Missense_Mutation_p.G82D	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	82	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAATGGCATTTTGTTT	0.602												
PCDHA5	56143	broad.mit.edu	37	5	140203211	140203211	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140203211G>A	uc003lhl.2	+	1	1851	c.1851G>A	c.(1849-1851)GCG>GCA	p.A617A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A617A|PCDHA5_uc003lhj.1_Silent_p.A617A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAGTGCGCGCATCCCGT	0.652												
PCDHA7	56141	broad.mit.edu	37	5	140214306	140214306	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140214306C>T	uc003lhq.2	+	1	338	c.338C>T	c.(337-339)CCG>CTG	p.P113L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P113L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	113	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAGGCCGCTGCAGGTT	0.567												
PCDHA9	9752	broad.mit.edu	37	5	140229805	140229805	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140229805C>T	uc003lhu.2	+	1	2449	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.G575G	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGACGGCGCAGTGAGCG	0.672												
PCDHA10	56139	broad.mit.edu	37	5	140237004	140237004	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140237004C>T	uc003lhx.2	+	1	1371	c.1371C>T	c.(1369-1371)TCC>TCT	p.S457S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.S457S|PCDHA10_uc011dad.1_Silent_p.S457S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	457	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGTCCGAGTACACGG	0.682												
PCDHA13	56136	broad.mit.edu	37	5	140262153	140262153	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140262153G>A	uc003lif.2	+	1	300	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A100A|PCDHA13_uc003lid.2_Silent_p.A100A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTGCAGCA	0.557												
PCDHA13	56136	broad.mit.edu	37	5	140263878	140263878	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140263878G>A	uc003lif.2	+	1	2025	c.2025G>A	c.(2023-2025)GCG>GCA	p.A675A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A675A|PCDHA13_uc003lid.2_Silent_p.A675A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	675	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A675V(1)		ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCCAAGCGCCACAGGCTT	0.657												
PCDHB5	26167	broad.mit.edu	37	5	140517042	140517042	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140517042G>A	uc003liq.2	+	1	2243	c.2026G>A	c.(2026-2028)GCC>ACC	p.A676T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	676	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGGAGGCGGCCCCGGCCCA	0.692												
PCDHB14	56122	broad.mit.edu	37	5	140604549	140604549	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140604549T>C	uc003ljb.2	+	1	1472	c.1472T>C	c.(1471-1473)CTG>CCG	p.L491P	PCDHB14_uc011dal.1_Missense_Mutation_p.L338P	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	491	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTCGCTGCTGCCGCCCCAG	0.652												
TAF7	6879	broad.mit.edu	37	5	140698650	140698650	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140698650A>G	uc003ljg.2	-	1	1702	c.962T>C	c.(961-963)GTA>GCA	p.V321A		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	321	Potential.				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATCCAGTACAGCCTGAAA	0.443												
PCDHGB3	56102	broad.mit.edu	37	5	140750742	140750742	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140750742G>A	uc003ljw.1	+	1	781	c.781G>A	c.(781-783)GTA>ATA	p.V261I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V261I|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	261	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCCTCCGTATTAAAAGT	0.463												
PCDHGA8	9708	broad.mit.edu	37	5	140773876	140773876	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140773876C>T	uc003lkd.1	+	1	2394	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A499V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	499	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGGGGCGCCCCTGTCC	0.567												
PCDHGA9	56107	broad.mit.edu	37	5	140783008	140783008	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140783008C>T	uc003lkh.1	+	1	489	c.489C>T	c.(487-489)GGC>GGT	p.G163G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.G163G	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	163	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGTTGGCGTGAACTCCC	0.527												
PCDHGA12	26025	broad.mit.edu	37	5	140811073	140811073	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140811073G>A	uc003lkt.1	+	1	916	c.747G>A	c.(745-747)GCG>GCA	p.A249A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A249A	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	249	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCGCGCGAGCGTTCCGG	0.632												
PCDHGC5	56097	broad.mit.edu	37	5	140868902	140868902	+	Missense_Mutation	SNP	G	G	A	rs138015049		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140868902G>A	uc003lla.1	+	1	95	c.95G>A	c.(94-96)CGT>CAT	p.R32H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R32H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	32	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCTTCGTTACTCAGTG	0.592												
ARAP3	64411	broad.mit.edu	37	5	141051513	141051513	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:141051513C>A	uc003llm.2	-	11	1698	c.1620G>T	c.(1618-1620)AAG>AAT	p.K540N	ARAP3_uc011dbe.1_Missense_Mutation_p.K202N|ARAP3_uc003lln.2_Missense_Mutation_p.K462N	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	540	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						GGCTCTGCACCTTGGAGATCC	0.478												
KCTD16	57528	broad.mit.edu	37	5	143853300	143853300	+	Missense_Mutation	SNP	G	G	A	rs139920765		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:143853300G>A	uc003lnm.1	+	4	1539	c.910G>A	c.(910-912)GGC>AGC	p.G304S	KCTD16_uc003lnn.1_Missense_Mutation_p.G304S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	304						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGGGGAGAGCGGCACGTCTTG	0.567												
JAKMIP2	9832	broad.mit.edu	37	5	146997527	146997527	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:146997527A>G	uc003loq.1	-	19	2675	c.2293T>C	c.(2293-2295)TAT>CAT	p.Y765H	JAKMIP2_uc011dbx.1_Missense_Mutation_p.Y723H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Y744H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Y765H	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	765	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGTCATACTCTCTGCTC	0.463												
ABLIM3	22885	broad.mit.edu	37	5	148563152	148563152	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:148563152G>T	uc003lpy.2	+	3	402	c.151G>T	c.(151-153)GTA>TTA	p.V51L	ABLIM3_uc003lpz.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqa.1_Missense_Mutation_p.K32N|ABLIM3_uc003lqb.2_Missense_Mutation_p.V51L|ABLIM3_uc003lqc.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqd.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqf.2_Missense_Mutation_p.V51L|ABLIM3_uc003lqe.1_Missense_Mutation_p.V51L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	51	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTCAAGGTAGGAGGCT	0.542												
SLC6A7	6534	broad.mit.edu	37	5	149581992	149581992	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:149581992C>T	uc003lrr.2	+	7	1312	c.941C>T	c.(940-942)ACG>ATG	p.T314M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	314						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTACAACACGTTTCACCAG	0.592												
TNIP1	10318	broad.mit.edu	37	5	150422141	150422141	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:150422141C>T	uc003ltf.2	-	11	1683	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.R365H|TNIP1_uc010jhn.2_Missense_Mutation_p.R365H|TNIP1_uc011dco.1_Missense_Mutation_p.R365H|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.R365H|TNIP1_uc003ltg.2_Missense_Mutation_p.R312H|TNIP1_uc003ltj.2_Missense_Mutation_p.R365H|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.R312H|TNIP1_uc010jhp.1_Missense_Mutation_p.R312H|TNIP1_uc010jhr.1_Missense_Mutation_p.R365H|TNIP1_uc003ltk.2_Missense_Mutation_p.R365H	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	365	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGAGCTTGCGGTCAAAGTC	0.567												
SLC36A3	285641	broad.mit.edu	37	5	150660654	150660654	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:150660654C>T	uc003ltw.2	-	9	1484	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.P340P|SLC36A3_uc003ltx.2_Silent_p.P396P	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	355	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGGCAAACGGGATGATGA	0.522												
B4GALT7	11285	broad.mit.edu	37	5	177035954	177035954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:177035954G>A	uc003mhy.2	+	5	807	c.767G>A	c.(766-768)CGC>CAC	p.R256H	B4GALT7_uc003mhz.2_Missense_Mutation_p.R142H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	256	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACATTTCGCCACCTGCAT	0.607												
HNRNPAB	3182	broad.mit.edu	37	5	177637616	177637616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:177637616C>T	uc003miu.2	+	8	1248	c.991C>T	c.(991-993)CCA>TCA	p.P331S	HNRNPAB_uc003miv.2_Missense_Mutation_p.P284S|HNRNPAB_uc010jks.2_Missense_Mutation_p.P282S|HNRNPAB_uc003miw.2_Missense_Mutation_p.P331S|HNRNPAB_uc003mix.2_Missense_Mutation_p.P284S|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	331					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						TAACTACAAGCCATACTGAGG	0.423												
GRM6	2916	broad.mit.edu	37	5	178413488	178413488	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:178413488C>T	uc003mjr.2	-	8	1946	c.1767G>A	c.(1765-1767)CCG>CCA	p.P589P	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.P172P|GRM6_uc003mjs.1_Silent_p.P209P	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	589	Helical; Name=1; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCAGGAGGAGCGGCGGGGCTG	0.716												
CDYL	9425	broad.mit.edu	37	6	4892607	4892607	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:4892607G>A	uc003mwi.2	+	4	978	c.847G>A	c.(847-849)GGG>AGG	p.G283R	CDYL_uc003mwj.2_Missense_Mutation_p.G229R|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.G97R|CDYL_uc011dhy.1_Missense_Mutation_p.G97R	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	283					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGCTGTTAACGGGAAAGGTGA	0.632												
RREB1	6239	broad.mit.edu	37	6	7231151	7231151	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7231151C>T	uc003mxc.2	+	10	3209	c.2819C>T	c.(2818-2820)CCC>CTC	p.P940L	RREB1_uc003mxb.2_Missense_Mutation_p.P940L|RREB1_uc010jnx.2_Missense_Mutation_p.P940L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	940					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTCCATCCCCAAGAACTTC	0.597												
RREB1	6239	broad.mit.edu	37	6	7231823	7231823	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7231823G>A	uc003mxc.2	+	10	3881	c.3491G>A	c.(3490-3492)CGC>CAC	p.R1164H	RREB1_uc003mxb.2_Missense_Mutation_p.R1164H|RREB1_uc010jnx.2_Missense_Mutation_p.R1164H	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1164					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCGACCCCGCGCCAACAGC	0.662												
RREB1	6239	broad.mit.edu	37	6	7246910	7246910	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7246910C>T	uc003mxc.2	+	11	4452	c.4062C>T	c.(4060-4062)GAC>GAT	p.D1354D	RREB1_uc003mxb.2_Silent_p.D1409D|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1354					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGAAGAGGACGCGTCGAGCA	0.706												
DSP	1832	broad.mit.edu	37	6	7585548	7585548	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7585548G>A	uc003mxp.1	+	24	8332	c.8053G>A	c.(8053-8055)GCC>ACC	p.A2685T	DSP_uc003mxq.1_Missense_Mutation_p.A2086T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2685	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAAGACATGGCCACCAGGCT	0.557												
NEDD9	4739	broad.mit.edu	37	6	11192590	11192590	+	Silent	SNP	C	C	T	rs76565582	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:11192590C>T	uc003mzv.2	-	4	818	c.651G>A	c.(649-651)CCG>CCA	p.P217P	NEDD9_uc010joz.2_Silent_p.P217P|NEDD9_uc003mzw.3_Silent_p.P71P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	217	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTTTTGTAGGCGGGATGTCAT	0.512												
GMPR	2766	broad.mit.edu	37	6	16295240	16295240	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:16295240C>A	uc003nbs.2	+	9	975	c.861C>A	c.(859-861)GCC>GCA	p.A287A		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	287					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CTTCCAGAGCCTCTGAGGGTA	0.498												
DEK	7913	broad.mit.edu	37	6	18237647	18237647	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:18237647C>G	uc003ncr.1	-	8	1056	c.863G>C	c.(862-864)AGC>ACC	p.S288T	DEK_uc011djf.1_Missense_Mutation_p.S254T|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	288					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTGGTGGTGCTGCTATCTGC	0.308			T	NUP214	AML							
FAM65B	9750	broad.mit.edu	37	6	24848384	24848384	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:24848384T>C	uc003neo.1	-	12	1124	c.948_splice	c.e12-1	p.Y316_splice	FAM65B_uc011djs.1_Splice_Site_p.Y345_splice|FAM65B_uc011dju.1_Splice_Site_p.Y350_splice|FAM65B_uc003nep.2_Splice_Site_p.Y316_splice|FAM65B_uc011djt.1_Splice_Site_p.Y316_splice	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1						cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TCAAATGGACTGCAAAACAAC	0.498												
HIST1H4F	8361	broad.mit.edu	37	6	26240759	26240759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:26240759C>T	uc003nhe.1	+	1	106	c.106C>T	c.(106-108)CGT>TGT	p.R36C		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	36					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCCGCCATCCGTCGCTTGGC	0.572												
HIST1H4I	8294	broad.mit.edu	37	6	27107164	27107164	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:27107164A>G	uc003niy.1	+	1	77	c.77A>G	c.(76-78)AAC>AGC	p.N26S	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	26					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CTGCGCGACAACATCCAGGGT	0.612			T	BCL6	NHL							
OR2J2	26707	broad.mit.edu	37	6	29141560	29141560	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:29141560T>A	uc011dlm.1	+	1	250	c.148T>A	c.(148-150)TCA>ACA	p.S50T		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCATCCTGTCATACGTGGA	0.448												
HLA-F	3134	broad.mit.edu	37	6	29692921	29692921	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:29692921G>T	uc010jrl.2	+	4	848	c.724G>T	c.(724-726)GGG>TGG	p.G242W	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.G242W|HLA-F_uc011dlx.1_Missense_Mutation_p.G242W|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	242	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GCAGCGGGATGGGGAGGAACA	0.642												
BAT2	7916	broad.mit.edu	37	6	31594894	31594894	+	Silent	SNP	G	G	A	rs141848058		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:31594894G>A	uc003nvb.3	+	11	1458	c.1209G>A	c.(1207-1209)CCG>CCA	p.P403P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P403P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	403	4 X 57 AA type A repeats.|2 X type B repeats.|2-1.					cytoplasm|nucleus	protein binding				0						AGACAGAGCCGGGACCTCCTG	0.662												
C6orf27	80737	broad.mit.edu	37	6	31740843	31740843	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:31740843G>A	uc011dog.1	-	7	1213	c.975C>T	c.(973-975)AGC>AGT	p.S325S	C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	325						extracellular region				ovary(3)	3						CCTCACCCATGCTGCCCGTGG	0.617												
CYP21A2	1589	broad.mit.edu	37	6	32008306	32008306	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32008306C>T	uc003nze.1	+	8	1181	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	CYP21A2_uc003nzf.1_Missense_Mutation_p.R325C	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	354	Steroid-binding (By similarity).		R -> H (in AH3; salt wasting form).|R -> C (in AH3; salt wasting form).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CGAGGTGCTGCGCCTGCGGCC	0.682												
TNXB	7148	broad.mit.edu	37	6	32011636	32011636	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32011636G>C	uc003nzl.2	-	35	11616	c.11414C>G	c.(11413-11415)GCC>GGC	p.A3805G	TNXB_uc003nzg.1_Missense_Mutation_p.A236G|TNXB_uc003nzh.1_Missense_Mutation_p.A274G	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3852	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGGGTCCGGGCCTGGCCATC	0.632												
TNXB	7148	broad.mit.edu	37	6	32052427	32052427	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32052427C>T	uc003nzl.2	-	8	3410	c.3208G>A	c.(3208-3210)GTG>ATG	p.V1070M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1157	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGTCTGTCACCGTCAGCTCA	0.592												
PPT2	9374	broad.mit.edu	37	6	32123549	32123549	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32123549G>A	uc003nzx.2	+	4	990	c.422G>A	c.(421-423)GGA>GAA	p.G141E	PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.G147E|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.G141E|PPT2_uc003oaa.2_Missense_Mutation_p.G141E|PPT2_uc010jtu.1_Missense_Mutation_p.G141E	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	141					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						CCACAGATGGGACAGTATGGA	0.522												
TAP2	6891	broad.mit.edu	37	6	32782191	32782191	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32782191A>G	uc011dqf.1	-	14	2492	c.2370T>C	c.(2368-2370)ACT>ACC	p.T790T	HLA-DOB_uc003oca.2_Silent_p.T183T|HLA-DOB_uc011dqg.1_Silent_p.T183T	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GCATCACCACAGTCTGAAAGG	0.527												
BRD2	6046	broad.mit.edu	37	6	32945631	32945631	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32945631C>T	uc003ocn.3	+	9	3128	c.1427C>T	c.(1426-1428)TCG>TTG	p.S476L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S476L|BRD2_uc003ocp.3_Missense_Mutation_p.S356L|BRD2_uc010juh.2_Missense_Mutation_p.S476L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	476	Glu/Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTGGCCAAATCGTCTTCAGAG	0.393												
COL11A2	1302	broad.mit.edu	37	6	33135270	33135270	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33135270G>A	uc003ocx.1	-	56	4283	c.4055C>T	c.(4054-4056)CCG>CTG	p.P1352L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1266L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1245L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1352	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						AGGACCCACCGGGCCTGTCTT	0.652												
RING1	6015	broad.mit.edu	37	6	33179100	33179100	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33179100C>T	uc003odk.2	+	5	815	c.621C>T	c.(619-621)GGC>GGT	p.G207G	RING1_uc011dqx.1_Silent_p.G207G|RING1_uc003odl.2_Silent_p.G178G	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	207	Necessary for transcriptional repression (By similarity).|Gly-rich.				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTGGAGGGGGCGCAGGGGGGA	0.701												
DAXX	1616	broad.mit.edu	37	6	33288840	33288840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33288840G>A	uc003oec.2	-	3	916	c.712C>T	c.(712-714)CGA>TGA	p.R238*	DAXX_uc011drd.1_Nonsense_Mutation_p.R163*|DAXX_uc011dre.1_Nonsense_Mutation_p.R250*|DAXX_uc003oed.2_Nonsense_Mutation_p.R238*|DAXX_uc010juw.2_Nonsense_Mutation_p.R163*	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	238					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TCACATAGTCGCCCAAAGAGG	0.567			Mis|F|N		Pancreatic neuroendocrine tumors							
KCTD20	222658	broad.mit.edu	37	6	36454701	36454701	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:36454701G>T	uc003ome.2	+	8	1400	c.1009G>T	c.(1009-1011)GGC>TGC	p.G337C	KCTD20_uc011dtm.1_Missense_Mutation_p.G192C|KCTD20_uc011dtn.1_Missense_Mutation_p.G91C|KCTD20_uc010jwk.2_Missense_Mutation_p.G171C|KCTD20_uc011dto.1_Missense_Mutation_p.G91C	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	337						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						AAGGCCTGGCGGCCGGTCTGA	0.448												
PRICKLE4	29964	broad.mit.edu	37	6	41754676	41754676	+	Missense_Mutation	SNP	G	G	T	rs79644072	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:41754676G>T	uc011duf.1	+	8	1212	c.964G>T	c.(964-966)GGG>TGG	p.G322W	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	282						nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCACCCAAAGGGCAGGAGCA	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CUL7	9820	broad.mit.edu	37	6	43008318	43008318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:43008318G>A	uc003otq.2	-	21	4276	c.3973C>T	c.(3973-3975)CAG>TAG	p.Q1325*	CUL7_uc010jyg.2_Nonsense_Mutation_p.Q604*|CUL7_uc011dvb.1_Nonsense_Mutation_p.Q1409*|CUL7_uc010jyh.2_Nonsense_Mutation_p.Q318*|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1325					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGATCCAGCTGCTGGAGCTGG	0.567												
DLK2	65989	broad.mit.edu	37	6	43418437	43418437	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:43418437G>T	uc003ova.2	-	6	1201	c.992C>A	c.(991-993)GCC>GAC	p.A331D	DLK2_uc003ovb.2_Missense_Mutation_p.A331D	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	331	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCGGCGCCAGGCCCTCAGGGT	0.647												
PKHD1	5314	broad.mit.edu	37	6	51491808	51491808	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:51491808A>G	uc003pah.1	-	66	12048	c.11772T>C	c.(11770-11772)ACT>ACC	p.T3924T		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3924	Cytoplasmic (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCCCACCACAGTGTCTTCTT	0.483												
ICK	22858	broad.mit.edu	37	6	52871165	52871165	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:52871165G>A	uc003pbh.2	-	14	2182	c.1692C>T	c.(1690-1692)ATC>ATT	p.I564I	ICK_uc003pbi.2_Silent_p.I564I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	564					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TAGCAGAACCGATTTCTTTTT	0.363												
OGFRL1	79627	broad.mit.edu	37	6	72003316	72003316	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:72003316T>C	uc003pfx.1	+	3	563	c.400_splice	c.e3+2	p.G134_splice		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1							membrane	receptor activity				0						AGCCAGATGGTGAGTAACGTA	0.289												
KHDC1	80759	broad.mit.edu	37	6	73951401	73951401	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:73951401G>T	uc003pgo.2	-	5	1066	c.565C>A	c.(565-567)CTG>ATG	p.L189M	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.L116M	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	189						integral to membrane	RNA binding			skin(1)	1						GAGGTGACCAGGTCATCGTTG	0.557												
PRSS35	167681	broad.mit.edu	37	6	84233911	84233911	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84233911T>C	uc003pjz.2	+	2	914	c.751T>C	c.(751-753)TGG>CGG	p.W251R	PRSS35_uc010kbm.2_Missense_Mutation_p.W251R	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCCTTTCAGTGGACCCGGGT	0.577												
CYB5R4	51167	broad.mit.edu	37	6	84573933	84573933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84573933C>T	uc003pkf.2	+	2	247	c.115C>T	c.(115-117)CGA>TGA	p.R39*		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	39					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GGATTGGATTCGACTGACCAA	0.328												
ZNF292	23036	broad.mit.edu	37	6	87967491	87967491	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87967491A>G	uc003plm.3	+	8	4185	c.4144A>G	c.(4144-4146)AGG>GGG	p.R1382G		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1382	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGGTGTTACAGGGCTTTTAC	0.458												
C6orf165	154313	broad.mit.edu	37	6	88144752	88144752	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:88144752C>T	uc003plv.2	+	11	1567	c.1475C>T	c.(1474-1476)ACA>ATA	p.T492I	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.T304I|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T492I	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	492										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CAGTTTGAAACATTTATTCCA	0.264												
MDN1	23195	broad.mit.edu	37	6	90364002	90364002	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:90364002T>C	uc003pnn.1	-	93	15658	c.15542A>G	c.(15541-15543)CAG>CGG	p.Q5181R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5181					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCTCTTCCTGATCTTTGCC	0.498												
BACH2	60468	broad.mit.edu	37	6	90660903	90660903	+	Missense_Mutation	SNP	C	C	T	rs61740507		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:90660903C>T	uc011eab.1	-	7	1731	c.922G>A	c.(922-924)GAG>AAG	p.E308K	BACH2_uc003pnw.2_Missense_Mutation_p.E308K|BACH2_uc010kch.2_Missense_Mutation_p.E308K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	308						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGGTCCATCTCGACATCCCCC	0.637												
DDO	8528	broad.mit.edu	37	6	110714129	110714129	+	Missense_Mutation	SNP	G	G	A	rs140929618		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:110714129G>A	uc003puc.2	-	5	963	c.959C>T	c.(958-960)GCG>GTG	p.A320V	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Missense_Mutation_p.A261V	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	292					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TCCATCTCGCGCAAGGAGCTC	0.647												
LAMA4	3910	broad.mit.edu	37	6	112441524	112441524	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:112441524T>C	uc003pvu.2	-	33	4936	c.4627A>G	c.(4627-4629)AGA>GGA	p.R1543G	LAMA4_uc003pvv.2_Missense_Mutation_p.R1536G|LAMA4_uc003pvt.2_Missense_Mutation_p.R1536G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1543	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTGGCTTCTAATCTTCAGT	0.403												
TPD52L1	7164	broad.mit.edu	37	6	125541259	125541259	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:125541259G>A	uc003pzu.1	+	2	274	c.55G>A	c.(55-57)GAA>AAA	p.E19K	TPD52L1_uc003pzv.1_Missense_Mutation_p.E19K|TPD52L1_uc003pzw.1_Missense_Mutation_p.E19K|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	19					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGGAACAGACGAAGATGCAGT	0.363												
C6orf174	387104	broad.mit.edu	37	6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GTAGATGCGCGCCTCGGTGAT	0.652												
MOXD1	26002	broad.mit.edu	37	6	132619024	132619024	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:132619024A>G	uc003qdf.2	-	11	1678	c.1579T>C	c.(1579-1581)TTT>CTT	p.F527L	MOXD1_uc003qde.2_Missense_Mutation_p.F459L	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	527	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTCCATTTAAACTTATTCATA	0.398												
ALDH8A1	64577	broad.mit.edu	37	6	135239813	135239813	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:135239813A>G	uc003qew.2	-	7	1257	c.1204T>C	c.(1204-1206)TTT>CTT	p.F402L	ALDH8A1_uc003qex.2_Missense_Mutation_p.F348L|ALDH8A1_uc010kgh.2_Missense_Mutation_p.F180L|ALDH8A1_uc011ecx.1_Missense_Mutation_p.F352L	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	402					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCACTATCAAAGGGGACGACA	0.532												
AHI1	54806	broad.mit.edu	37	6	135639703	135639703	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:135639703C>A	uc003qgi.2	-	26	3764	c.3380G>T	c.(3379-3381)AGC>ATC	p.S1127I	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.S577I|AHI1_uc003qgh.2_Missense_Mutation_p.S1127I|AHI1_uc003qgj.2_Missense_Mutation_p.S1127I|AHI1_uc003qgk.3_RNA	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	1127						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCCTCAGGGCTTAAAGGAGG	0.378												
PDE7B	27115	broad.mit.edu	37	6	136502384	136502384	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:136502384A>G	uc003qgp.2	+	11	1271	c.968A>G	c.(967-969)GAC>GGC	p.D323G	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.D375G	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	323	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGTGTGCTGACATTTGCAAT	0.468												
PEX3	8504	broad.mit.edu	37	6	143806337	143806337	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:143806337C>T	uc003qjl.2	+	11	1252	c.990C>T	c.(988-990)AAC>AAT	p.N330N		NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	330	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAATAGTAAACGGACAGATCC	0.363												
STX11	8676	broad.mit.edu	37	6	144508016	144508016	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:144508016C>T	uc003qks.3	+	2	444	c.252C>T	c.(250-252)CGC>CGT	p.R84R		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	84					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647									Familial_Hemophagocytic_Lymphohistiocytosis			
UTRN	7402	broad.mit.edu	37	6	144801014	144801014	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:144801014G>A	uc003qkt.2	+	25	3495	c.3403G>A	c.(3403-3405)GCA>ACA	p.A1135T	UTRN_uc010khq.1_Missense_Mutation_p.A1135T	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1135	Spectrin 8.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGACTTGGCAGAGATGCA	0.443												
AKAP12	9590	broad.mit.edu	37	6	151671353	151671353	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151671353C>A	uc011eep.1	+	4	2067	c.1827C>A	c.(1825-1827)CCC>CCA	p.P609P	AKAP12_uc003qoe.2_Silent_p.P609P|AKAP12_uc003qof.2_Silent_p.P511P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P504P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	609	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTGTCACTCCCTGGGCATCAT	0.507												
AKAP12	9590	broad.mit.edu	37	6	151674283	151674283	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151674283A>G	uc011eep.1	+	4	4997	c.4757A>G	c.(4756-4758)GAC>GGC	p.D1586G	AKAP12_uc003qoe.2_Missense_Mutation_p.D1586G|AKAP12_uc003qof.2_Missense_Mutation_p.D1488G|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D1481G	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1586					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATAAAAGCTGACAGCCAGGAC	0.493												
ZBTB2	57621	broad.mit.edu	37	6	151687735	151687735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151687735C>T	uc003qoh.2	-	3	601	c.466G>A	c.(466-468)GGG>AGG	p.G156R		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGATCTCGCCCGAGTTTTTCA	0.527												
RBM16	22828	broad.mit.edu	37	6	155154243	155154243	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:155154243G>A	uc003qqa.2	+	21	3762	c.3530G>A	c.(3529-3531)CGT>CAT	p.R1177H	TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.R1243H|RBM16_uc011efk.1_Missense_Mutation_p.R1222H|RBM16_uc003qpz.2_Missense_Mutation_p.R1177H|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	1177	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		AATGGAAATCGTCTTGGACGA	0.443												
NOX3	50508	broad.mit.edu	37	6	155718034	155718034	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:155718034C>T	uc003qqm.2	-	13	1746	c.1643G>A	c.(1642-1644)TGC>TAC	p.C548Y		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	548	Cytoplasmic (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATACAAGTGGCACATCTTTTG	0.453												
ARID1B	57492	broad.mit.edu	37	6	157522085	157522085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:157522085C>T	uc003qqn.2	+	18	4455	c.4303C>T	c.(4303-4305)CAG>TAG	p.Q1435*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1395*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1382*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1440					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGGCCCGCTGCAGTCGTCCTC	0.632												
SYNJ2	8871	broad.mit.edu	37	6	158454638	158454638	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:158454638C>T	uc003qqx.1	+	4	712	c.637C>T	c.(637-639)CGC>TGC	p.R213C	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R213C|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.R162C|SYNJ2_uc010kjo.1_Missense_Mutation_p.R162C	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	213	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TAGCTGTGAGCGCACAGGCAC	0.627												
TULP4	56995	broad.mit.edu	37	6	158735164	158735164	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:158735164G>A	uc003qrf.2	+	1	1473	c.116G>A	c.(115-117)CGC>CAC	p.R39H	TULP4_uc011efo.1_Missense_Mutation_p.R39H|TULP4_uc003qrg.2_Missense_Mutation_p.R39H	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	39					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCAGGAGACGCTACTATGAG	0.592												
PNLDC1	154197	broad.mit.edu	37	6	160227061	160227061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:160227061C>T	uc003qsx.1	+	7	646	c.475C>T	c.(475-477)CGG>TGG	p.R159W	PNLDC1_uc003qsy.1_Missense_Mutation_p.R170W	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	159	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGAAGTGACGCGGTGGCTGGA	0.542												
C6orf118	168090	broad.mit.edu	37	6	165713956	165713956	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:165713956G>A	uc003qum.3	-	3	809	c.773C>T	c.(772-774)ACG>ATG	p.T258M	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	258											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGGGCTGCACGTGCAAATTTT	0.433												
PDE10A	10846	broad.mit.edu	37	6	165895803	165895803	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:165895803C>T	uc003qun.2	-	4	436	c.195G>A	c.(193-195)AGG>AGA	p.R65R	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_5'UTR|PDE10A_uc003quo.2_Silent_p.R75R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	65					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATCACTTACCCTGCTGACTT	0.348												
THBS2	7058	broad.mit.edu	37	6	169637303	169637303	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:169637303C>T	uc003qwt.2	-	10	1687	c.1439G>A	c.(1438-1440)GGC>GAC	p.G480D		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	480	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTCTCCCGGCCACTCCCTTT	0.622												
INTS1	26173	broad.mit.edu	37	7	1525028	1525028	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:1525028C>A	uc003skn.2	-	23	3155	c.3054G>T	c.(3052-3054)GGG>GGT	p.G1018G	INTS1_uc003skp.1_Silent_p.G365G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1018					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CATCTGTGTCCCCCACATCCT	0.657												
SNX8	29886	broad.mit.edu	37	7	2296552	2296552	+	Missense_Mutation	SNP	A	A	T	rs144787122	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2296552A>T	uc003slw.2	-	10	1284	c.1241T>A	c.(1240-1242)ATC>AAC	p.I414N		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	414					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCGCGGAGGATGTGGGAGGT	0.627												
IQCE	23288	broad.mit.edu	37	7	2622222	2622222	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2622222C>T	uc003smo.3	+	9	823	c.639C>T	c.(637-639)AAC>AAT	p.N213N	IQCE_uc010ksm.1_Silent_p.N213N|IQCE_uc003sml.1_Silent_p.N213N|IQCE_uc011jvy.1_Silent_p.N197N|IQCE_uc011jvz.1_Silent_p.N148N|IQCE_uc003smk.3_Silent_p.N197N|IQCE_uc003smn.3_Silent_p.N148N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	213	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGGTCATTAACGGGCTGAAGC	0.652												
TTYH3	80727	broad.mit.edu	37	7	2689576	2689576	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2689576C>T	uc003smp.2	+	7	1012	c.825C>T	c.(823-825)GAC>GAT	p.D275D	TTYH3_uc010ksn.2_Translation_Start_Site|TTYH3_uc003smq.2_Silent_p.D104D	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	275	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGGACCCTGACGCCTACGTGA	0.632												
SDK1	221935	broad.mit.edu	37	7	4152977	4152977	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:4152977G>T	uc003smx.2	+	24	3630	c.3491G>T	c.(3490-3492)CGG>CTG	p.R1164L	SDK1_uc010kso.2_Missense_Mutation_p.R440L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1164	Fibronectin type-III 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGTCTTCCCGGGTCATCCAG	0.577												
SDK1	221935	broad.mit.edu	37	7	4304977	4304977	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:4304977C>T	uc003smx.2	+	45	6742	c.6603C>T	c.(6601-6603)GGC>GGT	p.G2201G	SDK1_uc010kso.2_Silent_p.G1457G|SDK1_uc003smy.2_Intron|SDK1_uc003smz.2_Silent_p.G261G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2201	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGGCCCCGGCGCGCGAACTC	0.692												
SLC29A4	222962	broad.mit.edu	37	7	5340275	5340275	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:5340275A>G	uc003sod.2	+	10	1593	c.1432A>G	c.(1432-1434)AAG>GAG	p.K478E	SLC29A4_uc003soc.2_Missense_Mutation_p.K478E|SLC29A4_uc003soe.2_Missense_Mutation_p.K464E|SLC29A4_uc010ksw.2_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	478	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGTGAGCCCCAAGCAGCGGGA	0.687												
CYTH3	9265	broad.mit.edu	37	7	6210190	6210190	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:6210190G>A	uc003spt.2	-	9	903	c.799C>T	c.(799-801)CGC>TGC	p.R267C	CYTH3_uc011jws.1_Missense_Mutation_p.R182C	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	267	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						CAGCCCTCGCGGTCGGGGTTG	0.637												
ABCB5	340273	broad.mit.edu	37	7	20782576	20782576	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:20782576G>A	uc003suw.3	+	16	2312	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	ABCB5_uc010kuh.2_Missense_Mutation_p.R1034H	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	589	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TTCATCCTCCGTGGCTTATCC	0.458												
DNAH11	8701	broad.mit.edu	37	7	21654837	21654837	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:21654837C>T	uc003svc.2	+	21	3989	c.3958C>T	c.(3958-3960)CGC>TGC	p.R1320C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1320	Potential.|Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAACAGTGTCGCAAAGAAAT	0.358									Kartagener_syndrome			
KLHL7	55975	broad.mit.edu	37	7	23191791	23191791	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:23191791G>C	uc003svs.3	+	7	1192	c.899G>C	c.(898-900)GGC>GCC	p.G300A	KLHL7_uc003svr.3_Missense_Mutation_p.G278A|KLHL7_uc011jys.1_Missense_Mutation_p.G224A|KLHL7_uc011jyt.1_Missense_Mutation_p.G75A|KLHL7_uc003svt.2_Missense_Mutation_p.G252A|KLHL7_uc011jyv.1_Missense_Mutation_p.G75A	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	300	Kelch 1.					Golgi apparatus|nucleolus|plasma membrane					0						CTATTTGGAGGCTCTCAACCA	0.393												
CPVL	54504	broad.mit.edu	37	7	29135831	29135831	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:29135831T>C	uc003szv.2	-	4	410	c.291A>G	c.(289-291)ATA>ATG	p.I97M	CPVL_uc003szw.2_Missense_Mutation_p.I97M|CPVL_uc003szx.2_Missense_Mutation_p.I97M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	97					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						CTTCTGGCTGTATCTAGAGGA	0.478												
PRR15	222171	broad.mit.edu	37	7	29606289	29606289	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:29606289C>T	uc003tac.1	+	2	1056	c.344C>T	c.(343-345)CCG>CTG	p.P115L		NM_175887	NP_787083	Q8IV56	PRR15_HUMAN	proline rich 15	115					multicellular organismal development						0						GGCAGGTCCCCGGAGGAGGCA	0.662												
ADCYAP1R1	117	broad.mit.edu	37	7	31104454	31104454	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:31104454C>G	uc003tca.1	+	3	282	c.59C>G	c.(58-60)GCC>GGC	p.A20G	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.A20G	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	20					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CAGGCCCCTGCCATGCATTCT	0.567												
POU6F2	11281	broad.mit.edu	37	7	39247127	39247127	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:39247127C>T	uc003thb.1	+	4	461	c.419C>T	c.(418-420)ACA>ATA	p.T140I	POU6F2_uc010kxo.2_Missense_Mutation_p.T132I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	140					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CTGGTTCTCACACTGCCAACA	0.587												
GLI3	2737	broad.mit.edu	37	7	42005564	42005564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:42005564G>A	uc011kbh.1	-	15	3198	c.3107C>T	c.(3106-3108)GCC>GTC	p.A1036V	GLI3_uc011kbg.1_Missense_Mutation_p.A977V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1036					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGCGGACGTGGCCATCGCCGG	0.697									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
TNS3	64759	broad.mit.edu	37	7	47474972	47474972	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:47474972C>T	uc003tnv.2	-	8	599	c.232G>A	c.(232-234)GCA>ACA	p.A78T	TNS3_uc003tnw.2_Missense_Mutation_p.A78T|TNS3_uc010kyo.1_Missense_Mutation_p.A78T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	78	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						AGGGGCGGTGCGTGGAGCTCT	0.542												
C7orf65	401335	broad.mit.edu	37	7	47694946	47694946	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:47694946G>A	uc010kyp.1	+	1	105	c.70G>A	c.(70-72)GGT>AGT	p.G24S		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	24											0						GGGAGGCAGCGgtcaggacag	0.323												
SEPT14	346288	broad.mit.edu	37	7	55902182	55902182	+	Missense_Mutation	SNP	C	C	T	rs149607538		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:55902182C>T	uc003tqz.2	-	6	773	c.656G>A	c.(655-657)GGC>GAC	p.G219D		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	219					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTGGATGCCATTGCTAAT	0.363												
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:56051523G>A	uc003tre.1	+	6	555	c.547G>A	c.(547-549)GGA>AGA	p.G183R	GBAS_uc003trf.1_Missense_Mutation_p.G144R	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	183						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398												
CLIP2	7461	broad.mit.edu	37	7	73753106	73753106	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:73753106G>A	uc003uam.2	+	3	777	c.450G>A	c.(448-450)ACG>ACA	p.T150T	CLIP2_uc003uan.2_Silent_p.T150T	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	150						microtubule associated complex				skin(3)	3						GGCAGCCCACGGCCGAGGGCT	0.697												
GTF2IRD1	9569	broad.mit.edu	37	7	74005183	74005183	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:74005183C>T	uc003uaq.2	+	24	2866	c.2473C>T	c.(2473-2475)CTG>TTG	p.L825L	GTF2IRD1_uc010lbq.2_Silent_p.L842L|GTF2IRD1_uc003uap.2_Silent_p.L810L|GTF2IRD1_uc003uar.1_Silent_p.L810L	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	825	GTF2I-like 5.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCGGCCGGTGCTGGTCCCTTA	0.592												
MAGI2	9863	broad.mit.edu	37	7	77885514	77885514	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:77885514G>A	uc003ugx.2	-	10	2047	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V	MAGI2_uc003ugy.2_Missense_Mutation_p.A598V|MAGI2_uc010ldx.1_Missense_Mutation_p.A207V|MAGI2_uc010ldy.1_Missense_Mutation_p.A207V|MAGI2_uc011kgr.1_Missense_Mutation_p.A430V|MAGI2_uc011kgs.1_Missense_Mutation_p.A435V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	598						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGCTTGGGTGGCCCCAGATGA	0.532												
PCLO	27445	broad.mit.edu	37	7	82474764	82474764	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:82474764C>T	uc003uhx.2	-	13	14158	c.13869G>A	c.(13867-13869)CAG>CAA	p.Q4623Q	PCLO_uc003uhv.2_Silent_p.Q4623Q|PCLO_uc003uht.1_Silent_p.Q74Q|PCLO_uc003uhu.1_Silent_p.Q53Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4511					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGCTGCCAACTGCTTAGGAT	0.428												
PCLO	27445	broad.mit.edu	37	7	82580152	82580152	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:82580152A>G	uc003uhx.2	-	6	10041	c.9752T>C	c.(9751-9753)ATC>ACC	p.I3251T	PCLO_uc003uhv.2_Missense_Mutation_p.I3251T|PCLO_uc010lec.2_Missense_Mutation_p.I216T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3182	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGAACCATGATCTTTTCTTG	0.473												
ABCB4	5244	broad.mit.edu	37	7	87037363	87037363	+	Missense_Mutation	SNP	G	G	A	rs143392573		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:87037363G>A	uc003uiv.1	-	25	3345	c.3269C>T	c.(3268-3270)GCG>GTG	p.A1090V	ABCB4_uc003uiw.1_Missense_Mutation_p.A1090V|ABCB4_uc003uix.1_Missense_Mutation_p.A1043V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1090	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACTGTCCCCGCCAAGGGGTC	0.498												
SLC25A13	10165	broad.mit.edu	37	7	95775886	95775886	+	Silent	SNP	C	C	A	rs146111714	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:95775886C>A	uc003uof.3	-	14	1625	c.1434G>T	c.(1432-1434)GGG>GGT	p.G478G	SLC25A13_uc003uog.3_Silent_p.G479G|SLC25A13_uc011kik.1_Silent_p.G370G	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	478	Solcar 2.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCAAAAAACCCCAGGTCCC	0.398												
SHFM1	7979	broad.mit.edu	37	7	96324111	96324111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:96324111G>A	uc003uoi.2	-	2	297	c.169C>T	c.(169-171)CGA>TGA	p.R57*	SHFM1_uc010lfn.1_Missense_Mutation_p.R57W	NM_006304	NP_006295	P60896	DSS1_HUMAN	split hand/foot malformation type 1	57					proteolysis	proteasome complex	peptidase activity|protein binding				0	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAAACTTACCGTAACTGATTA	0.333								Direct_reversal_of_damage|Homologous_recombination				
ZKSCAN5	23660	broad.mit.edu	37	7	99103788	99103788	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:99103788T>C	uc003uqv.2	+	2	245	c.121T>C	c.(121-123)TAC>CAC	p.Y41H	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GATGCAGGAGTACAACCCGCC	0.537												
AP4M1	9179	broad.mit.edu	37	7	99700406	99700406	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:99700406T>C	uc003utb.3	+	3	462	c.254_splice	c.e3+2	p.R85_splice	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Splice_Site_p.R85_splice|AP4M1_uc010lgl.1_Splice_Site_p.R85_splice|AP4M1_uc003utc.3_Splice_Site_p.R92_splice|AP4M1_uc010lgm.2_Splice_Site|AP4M1_uc003utd.2_Splice_Site_p.R85_splice|AP4M1_uc011kjh.1_Splice_Site_p.R37_splice|AP4M1_uc003ute.3_Splice_Site|AP4M1_uc003utf.3_Splice_Site	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTCCAGGTGAGGAGGGTT	0.547												
EPO	2056	broad.mit.edu	37	7	100320333	100320333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100320333C>T	uc003uwi.2	+	4	474	c.293C>T	c.(292-294)TCG>TTG	p.S98L	EPO_uc011kkc.1_Missense_Mutation_p.S98L	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	98					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCCTGCTGTCGGAAGCTGTC	0.652												
SLC12A9	56996	broad.mit.edu	37	7	100459533	100459533	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100459533G>A	uc003uwp.2	+	12	1853	c.1711G>A	c.(1711-1713)GAC>AAC	p.D571N	SLC12A9_uc003uwq.2_Missense_Mutation_p.D482N|SLC12A9_uc011kki.1_Missense_Mutation_p.D102N|SLC12A9_uc003uwr.2_Missense_Mutation_p.D307N|SLC12A9_uc003uws.2_Missense_Mutation_p.D102N|SLC12A9_uc003uwt.2_Missense_Mutation_p.D307N|SLC12A9_uc003uwv.2_Missense_Mutation_p.D102N	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	571	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAGACCTCGGTGAGCTGCC	0.507												
PLOD3	8985	broad.mit.edu	37	7	100859470	100859470	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100859470G>A	uc003uyd.2	-	4	932	c.476C>T	c.(475-477)ACG>ATG	p.T159M	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	159					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGCTTCCCCGTGCCCACCTC	0.632												
MLL5	55904	broad.mit.edu	37	7	104703837	104703837	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:104703837G>A	uc003vcm.2	+	5	760	c.226G>A	c.(226-228)GCT>ACT	p.A76T	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.A76T|MLL5_uc003vcl.2_Missense_Mutation_p.A76T|MLL5_uc010ljc.2_Missense_Mutation_p.A76T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	76					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GACACCTCCGGCTTCCCCTCC	0.373												
PIK3CG	5294	broad.mit.edu	37	7	106508513	106508513	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:106508513C>T	uc003vdv.3	+	2	592	c.507C>T	c.(505-507)CAC>CAT	p.H169H	PIK3CG_uc003vdu.2_Silent_p.H169H|PIK3CG_uc003vdw.2_Silent_p.H169H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	169					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.H169H(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCAACGTGCACGACGATGAGC	0.672												
CBLL1	79872	broad.mit.edu	37	7	107398609	107398609	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:107398609A>G	uc003veq.2	+	6	792	c.462A>G	c.(460-462)CGA>CGG	p.R154R	CBLL1_uc011kme.1_Silent_p.R33R|CBLL1_uc011kmf.1_Silent_p.R153R	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	154					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						CTGTGCAGCGAATTGAGCAGT	0.358												
LRRN3	54674	broad.mit.edu	37	7	110763694	110763694	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:110763694T>A	uc003vft.3	+	4	1912	c.866T>A	c.(865-867)TTG>TAG	p.L289*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L289*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L289*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	289	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAAAAGAGTTGGGGATAAAT	0.328												
KCND2	3751	broad.mit.edu	37	7	119915484	119915484	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:119915484C>T	uc003vjj.1	+	1	1763	c.798C>T	c.(796-798)GAC>GAT	p.D266D		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	266	Helical; Name=Segment S3; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTATCATCGACGTGGTGGCCA	0.532												
C7orf58	79974	broad.mit.edu	37	7	120740134	120740134	+	Missense_Mutation	SNP	C	C	T	rs145131821		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:120740134C>T	uc003vjq.3	+	7	1351	c.904C>T	c.(904-906)CGC>TGC	p.R302C	C7orf58_uc003vjr.1_Missense_Mutation_p.R302C|C7orf58_uc003vjs.3_Missense_Mutation_p.R302C|C7orf58_uc003vjt.3_Missense_Mutation_p.R82C|C7orf58_uc010lkk.1_Missense_Mutation_p.R82C	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	302						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AAAGAAAAAACGCTTCACTGT	0.428												
CADPS2	93664	broad.mit.edu	37	7	122261562	122261562	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:122261562G>A	uc010lkp.2	-	5	1240	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	CADPS2_uc003vkg.3_Silent_p.S59S|CADPS2_uc010lkq.2_Silent_p.S359S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	359					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GTACCACGTCGGACTTTGACA	0.393												
TAS2R16	50833	broad.mit.edu	37	7	122635358	122635358	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:122635358T>C	uc003vkl.1	-	1	397	c.331A>G	c.(331-333)ACC>GCC	p.T111A		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	111	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						ATGTGATGGGTGAAAGAAGAG	0.398												
GCC1	79571	broad.mit.edu	37	7	127222666	127222666	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127222666C>T	uc003vma.2	-	2	2148	c.1730G>A	c.(1729-1731)CGC>CAC	p.R577H		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	577	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						TTTCAGTGTGCGGTCCCTGAA	0.632												
SND1	27044	broad.mit.edu	37	7	127361422	127361422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127361422C>T	uc003vmi.2	+	10	1346	c.1120C>T	c.(1120-1122)CGA>TGA	p.R374*	SND1_uc010lle.2_Nonsense_Mutation_p.R27*	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	374	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GTCCAGCATCCGACCACCGAG	0.493												
SMO	6608	broad.mit.edu	37	7	128850945	128850945	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:128850945G>T	uc003vor.2	+	10	2072	c.1792G>T	c.(1792-1794)GGG>TGG	p.G598W	SMO_uc003vos.2_Missense_Mutation_p.G273W	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	598	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GTCCCACGACGGGCCCGTGGG	0.632			Mis		skin basal cell 							
AHCYL2	23382	broad.mit.edu	37	7	129019540	129019540	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:129019540G>A	uc011kov.1	+	2	479	c.425G>A	c.(424-426)CGC>CAC	p.R142H	AHCYL2_uc003vot.2_Missense_Mutation_p.R141H|AHCYL2_uc003vov.2_Missense_Mutation_p.R39H|AHCYL2_uc011kow.1_Missense_Mutation_p.R40H|AHCYL2_uc011kox.1_Missense_Mutation_p.R39H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	142					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						ATTGGACGTCGCTCTTTGTCT	0.428												
FAM40B	57464	broad.mit.edu	37	7	129125495	129125495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:129125495G>A	uc011koy.1	+	21	2370	c.2330G>A	c.(2329-2331)CGT>CAT	p.R777H	FAM40B_uc011koz.1_Missense_Mutation_p.R269H	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	777											0						TTTAACAGCCGTCGCTATGAC	0.498												
WDR91	29062	broad.mit.edu	37	7	134878091	134878091	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:134878091C>T	uc003vsp.2	-	11	1613	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	WDR91_uc010lmq.2_Silent_p.P106P|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	517	WD 3.									breast(2)|ovary(1)|skin(1)	4						AAGTGAGGCTCGGAGCTGCTG	0.607												
DGKI	9162	broad.mit.edu	37	7	137148242	137148242	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:137148242C>T	uc003vtt.2	-	28	2753	c.2752G>A	c.(2752-2754)GTG>ATG	p.V918M	DGKI_uc003vtu.2_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	918					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						TACTGTAGCACGCGGGAGTGG	0.532												
SVOPL	136306	broad.mit.edu	37	7	138333800	138333800	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:138333800C>T	uc011kqh.1	-	7	617	c.617G>A	c.(616-618)CGC>CAC	p.R206H	SVOPL_uc003vue.2_Missense_Mutation_p.R54H	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	206	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GGAGGCGACGCGAATGAGCCA	0.612												
HIPK2	28996	broad.mit.edu	37	7	139311473	139311473	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:139311473C>T	uc003vvf.3	-	6	1667	c.1493G>A	c.(1492-1494)CGG>CAG	p.R498Q	HIPK2_uc003vvd.3_Missense_Mutation_p.R498Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	498	Protein kinase.|Interaction with DAXX.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AATGAACTCCCGCCGGTCAGC	0.502												
C7orf34	135927	broad.mit.edu	37	7	142636664	142636664	+	Silent	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:142636664A>T	uc003wca.2	+	1	62	c.21A>T	c.(19-21)GGA>GGT	p.G7G		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	Error:Variant_position_missing_in_Q96L11_after_alignment						extracellular region					0	Melanoma(164;0.059)					AGGTGCACGGATCCTGCTGGG	0.627												
ZYX	7791	broad.mit.edu	37	7	143080027	143080027	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:143080027T>C	uc003wcw.2	+	5	790	c.635T>C	c.(634-636)GTT>GCT	p.V212A	ZYX_uc011ktd.1_Missense_Mutation_p.V55A|ZYX_uc003wcx.2_Missense_Mutation_p.V212A|ZYX_uc011kte.1_Missense_Mutation_p.V181A|ZYX_uc011ktf.1_Missense_Mutation_p.V55A	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	212					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTGCCCCAGGTTCCGGCTCCG	0.438												
ARHGEF5	7984	broad.mit.edu	37	7	144075916	144075916	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:144075916G>A	uc003wel.2	+	14	4711	c.4593G>A	c.(4591-4593)CTG>CTA	p.L1531L	ARHGEF5_uc003wem.2_Silent_p.L332L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1531	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					AATTGGCACTGGAGAAAGCCG	0.587												
CUL1	8454	broad.mit.edu	37	7	148456448	148456448	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:148456448T>C	uc010lpg.2	+	5	1060	c.534_splice	c.e5+2	p.Q178_splice	CUL1_uc003wey.2_Splice_Site_p.Q178_splice|CUL1_uc003wez.2_Splice_Site_p.Q68_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AATAAACAGGTACCTACTGGT	0.418												
KRBA1	84626	broad.mit.edu	37	7	149426385	149426385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:149426385G>A	uc003wfz.2	+	14	2134	c.1735G>A	c.(1735-1737)GTC>ATC	p.V579I	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	579										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCAGCTGCGTCCCCGCCTG	0.697												
KCNH2	3757	broad.mit.edu	37	7	150648901	150648901	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:150648901G>A	uc003wic.2	-	7	1593	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V	KCNH2_uc003wib.2_Missense_Mutation_p.A187V|KCNH2_uc011kux.1_Missense_Mutation_p.A431V|KCNH2_uc003wid.2_Missense_Mutation_p.A187V|KCNH2_uc003wie.2_Missense_Mutation_p.A527V	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	527	Helical; Voltage-sensor; Name=Segment S4; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGCAGCCGCGCAGTCTTCAG	0.667												
SLC4A2	6522	broad.mit.edu	37	7	150767852	150767852	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:150767852G>A	uc003wit.3	+	12	1859	c.1603G>A	c.(1603-1605)GTG>ATG	p.V535M	SLC4A2_uc011kve.1_Missense_Mutation_p.V526M|SLC4A2_uc003wiu.3_Missense_Mutation_p.V521M|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	535	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCCTTTGTGCGGCTCCG	0.657												
MLL3	58508	broad.mit.edu	37	7	151860907	151860907	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:151860907C>T	uc003wla.2	-	43	9974	c.9755G>A	c.(9754-9756)CGT>CAT	p.R3252H	MLL3_uc003wkz.2_Missense_Mutation_p.R2313H|MLL3_uc003wky.2_Missense_Mutation_p.R761H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3252	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	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)		CTGTTGTTTACGAATCTGGAA	0.428			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151962185	151962185	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:151962185C>T	uc003wla.2	-	8	1341	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	374	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	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)		ATGGAGTAACCGCTATATCCA	0.448			N		medulloblastoma							
PTPRN2	5799	broad.mit.edu	37	7	157959759	157959759	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:157959759G>A	uc003wno.2	-	6	895	c.774C>T	c.(772-774)CCC>CCT	p.P258P	PTPRN2_uc003wnp.2_Silent_p.P241P|PTPRN2_uc003wnq.2_Silent_p.P258P|PTPRN2_uc003wnr.2_Silent_p.P220P|PTPRN2_uc011kwa.1_Silent_p.P281P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	258	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCCTCCCCGGGGGGAGCTG	0.652												
PTPRN2	5799	broad.mit.edu	37	7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:157985120C>T	uc003wno.2	-	5	569	c.448G>A	c.(448-450)GCC>ACC	p.A150T	PTPRN2_uc003wnp.2_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.2_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.2_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.1_Missense_Mutation_p.A173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	150	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652												
DEFB1	1672	broad.mit.edu	37	8	6728283	6728283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:6728283G>A	uc003wqs.2	-	2	277	c.127C>T	c.(127-129)CAA>TAA	p.Q43*		NM_005218	NP_005209	P60022	DEFB1_HUMAN	defensin, beta 1 preproprotein	43					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region					0			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		TAGAGACATTGCCCTCCACTG	0.493												
TNKS	8658	broad.mit.edu	37	8	9609124	9609124	+	Silent	SNP	C	C	T	rs139610385	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:9609124C>T	uc003wss.2	+	19	2843	c.2838C>T	c.(2836-2838)GAC>GAT	p.D946D	TNKS_uc011kww.1_Silent_p.D709D|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	946					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TTTAGGCTGACGATATCAGAG	0.373												
TUSC3	7991	broad.mit.edu	37	8	15508312	15508312	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:15508312G>A	uc003wwt.2	+	3	625	c.415G>A	c.(415-417)GTT>ATT	p.V139I	TUSC3_uc003wwr.2_Missense_Mutation_p.V139I|TUSC3_uc003wws.2_Missense_Mutation_p.V139I|TUSC3_uc003wwu.2_Missense_Mutation_p.V139I|TUSC3_uc003wwv.2_Missense_Mutation_p.V139I|TUSC3_uc003www.2_Missense_Mutation_p.V139I|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.V139I	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	139					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GGGGACAGACGTTTTTCAGCA	0.343												
SORBS3	10174	broad.mit.edu	37	8	22428603	22428603	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:22428603C>T	uc003xbv.2	+	18	1952	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	SORBS3_uc003xbw.3_Missense_Mutation_p.R196C	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	538					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGCTGCCGCCCGCTCAGCCCG	0.706												
CHMP7	91782	broad.mit.edu	37	8	23117743	23117743	+	Missense_Mutation	SNP	C	C	A	rs146799525	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:23117743C>A	uc003xdc.2	+	10	1855	c.1207C>A	c.(1207-1209)CGC>AGC	p.R403S	CHMP7_uc003xdd.2_Missense_Mutation_p.R293S|CHMP7_uc003xde.2_Silent_p.P240P	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	403					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGACAACCCCCGCAATAGGCA	0.458												
KCTD9	54793	broad.mit.edu	37	8	25292919	25292919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:25292919G>A	uc003xeo.2	-	9	931	c.773C>T	c.(772-774)GCA>GTA	p.A258V	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	258						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAAGATTTGCACAGCAAAG	0.383												
DUSP4	1846	broad.mit.edu	37	8	29194651	29194651	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:29194651G>T	uc003xhm.2	-	4	1467	c.1077C>A	c.(1075-1077)ACC>ACA	p.T359T	DUSP4_uc003xhl.2_Silent_p.T268T	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	359	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCGAGGTGGGGGTGGCGGGGG	0.697												
ADAM32	203102	broad.mit.edu	37	8	39022310	39022310	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:39022310A>T	uc003xmt.3	+	8	867	c.622A>T	c.(622-624)ATA>TTA	p.I208L	ADAM32_uc011lch.1_Missense_Mutation_p.I215L|ADAM32_uc003xmu.3_Missense_Mutation_p.I208L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	208	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGATAGCATGATAGTAACAAA	0.264												
AP3M2	10947	broad.mit.edu	37	8	42019858	42019858	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:42019858C>T	uc003xop.2	+	5	796	c.505C>T	c.(505-507)CGG>TGG	p.R169W	AP3M2_uc003xoo.2_Missense_Mutation_p.R169W|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R54W|AP3M2_uc003xor.1_Missense_Mutation_p.R169W	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCCTTGGCGACGGACTGGGGT	0.418												
PLAT	5327	broad.mit.edu	37	8	42033526	42033526	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:42033526G>A	uc003xos.2	-	14	1883	c.1674C>T	c.(1672-1674)GAC>GAT	p.D558D	PLAT_uc010lxf.1_Silent_p.D475D|PLAT_uc010lxg.1_Silent_p.D383D|PLAT_uc003xot.2_Silent_p.D512D|PLAT_uc011lcm.1_Silent_p.D469D|PLAT_uc011lcn.1_Silent_p.D432D	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	558	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTCGCATGTTGTCACGAATCC	0.537												
HGSNAT	138050	broad.mit.edu	37	8	43047527	43047527	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:43047527G>A	uc003xpx.3	+	13	1379	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	472	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TACATCGACCGCCTGCTGCTG	0.507												
PRKDC	5591	broad.mit.edu	37	8	48777212	48777212	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:48777212T>C	uc003xqi.2	-	42	5533	c.5476A>G	c.(5476-5478)ACT>GCT	p.T1826A	PRKDC_uc003xqj.2_Missense_Mutation_p.T1826A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1826					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CACAGCAGAGTGAGGAGGGAG	0.498								NHEJ				
PXDNL	137902	broad.mit.edu	37	8	52323922	52323922	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:52323922C>T	uc003xqu.3	-	16	2051	c.1950G>A	c.(1948-1950)CCG>CCA	p.P650P	PXDNL_uc003xqt.3_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	650					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P650P(1)		ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGGTCACGCGGGTAATGAA	0.493												
RP1	6101	broad.mit.edu	37	8	55541567	55541567	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:55541567G>A	uc003xsd.1	+	4	5273	c.5125G>A	c.(5125-5127)GTG>ATG	p.V1709M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1709					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTAGTGCTGTGAGGGACAA	0.413												
NSMAF	8439	broad.mit.edu	37	8	59520362	59520362	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:59520362C>T	uc003xtt.2	-	11	939	c.725G>A	c.(724-726)CGC>CAC	p.R242H	NSMAF_uc011lee.1_Missense_Mutation_p.R273H|NSMAF_uc003xtu.2_Missense_Mutation_p.R242H	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	242	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGTAGATGCGGCGGACATC	0.443												
BHLHE22	27319	broad.mit.edu	37	8	65493746	65493746	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:65493746G>A	uc003xvi.2	+	1	933	c.399G>A	c.(397-399)GCG>GCA	p.A133A	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	133	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCGAAAGCGCGAGCCGGGGCT	0.731												
C8orf46	254778	broad.mit.edu	37	8	67425779	67425779	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:67425779C>T	uc003xwg.2	+	5	740	c.347C>T	c.(346-348)CCG>CTG	p.P116L	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Silent_p.T95T|C8orf46_uc003xwi.2_5'UTR	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	116										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGACAGATACCGCCAGTGCCC	0.577												
SLCO5A1	81796	broad.mit.edu	37	8	70744100	70744100	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70744100G>A	uc003xyl.2	-	2	1516	c.809C>T	c.(808-810)GCG>GTG	p.A270V	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A270V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A270V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A270V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	270	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGAATCTGCGCGCAAATGAA	0.502												
PRDM14	63978	broad.mit.edu	37	8	70980488	70980488	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70980488C>T	uc003xym.2	-	4	1091	c.889G>A	c.(889-891)GGA>AGA	p.G297R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	297	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAATTGTCTCCGTAGGTCTTC	0.498												
MSC	9242	broad.mit.edu	37	8	72756349	72756349	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:72756349G>A	uc003xyx.1	-	1	383	c.65C>T	c.(64-66)CCG>CTG	p.P22L	uc011lff.1_Intron|uc003xyy.2_RNA	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	22					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCGGGGACCGGGTACTCCCG	0.697												
IMPA1	3612	broad.mit.edu	37	8	82592961	82592961	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:82592961C>A	uc003ych.2	-	3	248	c.121G>T	c.(121-123)GAT>TAT	p.D41Y	IMPA1_uc011lfq.1_Missense_Mutation_p.D100Y|IMPA1_uc011lfr.1_Missense_Mutation_p.D41Y	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	41					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	GTTACCAAATCAACTGGAGAA	0.303												
DECR1	1666	broad.mit.edu	37	8	91031385	91031385	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:91031385T>C	uc003yek.1	+	4	543	c.402T>C	c.(400-402)GTT>GTC	p.V134V	DECR1_uc011lgc.1_Silent_p.V125V|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	134					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGATCAAAGTTGCAGGACATC	0.368												
KIAA1429	25962	broad.mit.edu	37	8	95523814	95523814	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:95523814G>T	uc003ygo.1	-	13	3002	c.2989C>A	c.(2989-2991)CTT>ATT	p.L997I	KIAA1429_uc003ygp.2_Missense_Mutation_p.L997I|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	997					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTCTGTGAAGGGTAGTCCCC	0.428												
C8orf38	137682	broad.mit.edu	37	8	96047721	96047721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:96047721C>T	uc003yhj.2	+	3	353	c.337C>T	c.(337-339)CGA>TGA	p.R113*	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Nonsense_Mutation_p.R21*|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Nonsense_Mutation_p.R61*|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Nonsense_Mutation_p.R21*	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	113					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TGGACTGATGCGAATGCAGTT	0.328												
GDF6	392255	broad.mit.edu	37	8	97157057	97157057	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:97157057A>C	uc003yhp.2	-	2	1202	c.1102T>G	c.(1102-1104)TGG>GGG	p.W368G		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	368					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CAGTCGTCCCAGCCCAGCTCC	0.627												
PTDSS1	9791	broad.mit.edu	37	8	97321797	97321797	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:97321797T>C	uc003yht.1	+	9	1122	c.1020T>C	c.(1018-1020)GCT>GCC	p.A340A	PTDSS1_uc003yhu.1_Silent_p.A194A	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	340					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGTACTACGCTTACCTCACCG	0.413												
OSR2	116039	broad.mit.edu	37	8	99961493	99961493	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:99961493G>A	uc003yir.2	+	2	848	c.313G>A	c.(313-315)GTC>ATC	p.V105I	OSR2_uc010mbn.2_Missense_Mutation_p.V105I|OSR2_uc003yiq.2_Missense_Mutation_p.V105I|OSR2_uc011lgx.1_Missense_Mutation_p.V226I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	105					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CATTGCCCACGTCCTCCCAGC	0.652												
VPS13B	157680	broad.mit.edu	37	8	100115327	100115327	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:100115327C>T	uc003yiv.2	+	5	670	c.559C>T	c.(559-561)CGT>TGT	p.R187C	VPS13B_uc003yiw.2_Missense_Mutation_p.R187C|VPS13B_uc003yit.2_Missense_Mutation_p.R187C|VPS13B_uc003yiu.1_Missense_Mutation_p.R187C|VPS13B_uc003yis.2_Missense_Mutation_p.R187C|VPS13B_uc011lgy.1_Missense_Mutation_p.R63C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	187					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTATGGGATCGTGCATTCAT	0.333												
CTHRC1	115908	broad.mit.edu	37	8	104388118	104388118	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:104388118C>A	uc003ylk.2	+	2	402	c.303C>A	c.(301-303)TCC>TCA	p.S101S	CTHRC1_uc011lhq.1_Silent_p.S101S	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	101						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTGAGGAGTCCTGGACACCCA	0.463												
ZHX1	11244	broad.mit.edu	37	8	124266643	124266643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:124266643G>A	uc003yqe.2	-	3	1974	c.1544C>T	c.(1543-1545)ACA>ATA	p.T515I	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.T515I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.T515I	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	515	Homeobox 2.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTGTACCTTGTGTCACTAAA	0.363												
FER1L6	654463	broad.mit.edu	37	8	124989713	124989713	+	Silent	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:124989713C>A	uc003yqw.2	+	10	1133	c.927C>A	c.(925-927)ATC>ATA	p.I309I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	309	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACAGGTGATCTTCAAGGAAA	0.517												
ASAP1	50807	broad.mit.edu	37	8	131070256	131070256	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:131070256T>C	uc003yta.1	-	28	3287	c.3259A>G	c.(3259-3261)ACA>GCA	p.T1087A	ASAP1_uc003ysz.1_Missense_Mutation_p.T898A|ASAP1_uc011liw.1_Missense_Mutation_p.T1080A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1087	SH3.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCGATGAATGTGAGCTCGTCA	0.448												
ADCY8	114	broad.mit.edu	37	8	131833656	131833656	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:131833656C>A	uc003ytd.3	-	13	2942	c.2686G>T	c.(2686-2688)GGG>TGG	p.G896W	ADCY8_uc010mds.2_Missense_Mutation_p.G765W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	896	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCTTGGTCCCCAGGAAATCT	0.458										HNSCC(32;0.087)		
LRRC6	23639	broad.mit.edu	37	8	133627291	133627291	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:133627291C>T	uc003ytk.2	-	8	1041	c.967G>A	c.(967-969)GTC>ATC	p.V323I	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	323	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TACCTATAGACAGCAAGGTCC	0.303												
WISP1	8840	broad.mit.edu	37	8	134203444	134203444	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:134203444C>T	uc003yub.2	+	1	133	c.57C>T	c.(55-57)ACC>ACT	p.T19T	WISP1_uc003yuc.2_Silent_p.T19T|WISP1_uc010meb.2_Missense_Mutation_p.R28C|WISP1_uc010mec.2_Silent_p.T19T|WISP1_uc010med.2_Silent_p.T19T	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	19					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCGCCAGCACCGTCCTGGCCA	0.657												
SCRIB	23513	broad.mit.edu	37	8	144887379	144887379	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:144887379C>T	uc003yzp.1	-	19	2580	c.2573G>A	c.(2572-2574)CGT>CAT	p.R858H	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.R858H	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	858	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGGCGCTGACGGAGGGGCCC	0.721												
EPPK1	83481	broad.mit.edu	37	8	144946807	144946807	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:144946807C>T	uc003zaa.1	-	1	628	c.615G>A	c.(613-615)ACG>ACA	p.T205T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	205	Plectin 5.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCTCCAGCGTGTTGGGGT	0.652												
CYC1	1537	broad.mit.edu	37	8	145152192	145152192	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145152192T>C	uc003zaz.3	+	7	974	c.931T>C	c.(931-933)TGG>CGG	p.W311R	CYC1_uc003zay.2_Missense_Mutation_p.W252R	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	311					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGCACAAGTGGTCAGTCCT	0.582												
CPSF1	29894	broad.mit.edu	37	8	145626108	145626108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145626108G>A	uc003zcj.2	-	7	718	c.643C>T	c.(643-645)CCT>TCT	p.P215S	CPSF1_uc003zck.1_Missense_Mutation_p.P137S|CPSF1_uc011lle.1_Missense_Mutation_p.P215S|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.P215S	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	215					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGGGTAGGCTCGTAGTAG	0.622												
PPP1R16A	84988	broad.mit.edu	37	8	145725579	145725579	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145725579C>T	uc003zdd.2	+	5	1490	c.577C>T	c.(577-579)CGT>TGT	p.R193C	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.R193C|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	193						plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATGGCCGACCGTGGTAGGTG	0.677												
ZNF517	340385	broad.mit.edu	37	8	146032997	146032997	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:146032997G>A	uc003zed.1	+	5	803	c.696G>A	c.(694-696)CCG>CCA	p.P232P	ZNF517_uc010mgd.1_Silent_p.P138P|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.P138P|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGGAGAAGCCGTTCCAGTGCG	0.672												
ZNF517	340385	broad.mit.edu	37	8	146033389	146033389	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:146033389C>T	uc003zed.1	+	5	1195	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	ZNF517_uc010mgd.1_Missense_Mutation_p.A269V|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.A269V|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGGCCCCAGGCGGGGGACCCG	0.736												
SMARCA2	6595	broad.mit.edu	37	9	2039686	2039686	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2039686G>A	uc003zhc.2	+	4	675	c.576G>A	c.(574-576)CTG>CTA	p.L192L	SMARCA2_uc003zhd.2_Silent_p.L192L|SMARCA2_uc010mha.2_Silent_p.L183L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	192					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATAAAATGCTGGCCCGAGGCC	0.488												
VLDLR	7436	broad.mit.edu	37	9	2645662	2645662	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2645662G>T	uc003zhk.1	+	10	1798	c.1401G>T	c.(1399-1401)CAG>CAT	p.Q467H	VLDLR_uc003zhl.1_Missense_Mutation_p.Q467H|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.Q426H	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	467	Extracellular (Potential).|LDL-receptor class B 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTTGAACAGCTAAGAAACA	0.438												
KIAA0020	9933	broad.mit.edu	37	9	2837315	2837315	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2837315T>A	uc003zhp.1	-	3	265	c.169A>T	c.(169-171)ATC>TTC	p.I57F	KIAA0020_uc010mhc.1_Missense_Mutation_p.I56F|KIAA0020_uc003zhq.1_Missense_Mutation_p.I57F	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	57						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		AGTTTTGTGATACTTTTCTCA	0.373												
INSL4	3641	broad.mit.edu	37	9	5231719	5231719	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:5231719G>A	uc003ziy.2	+	1	301	c.196G>A	c.(196-198)GAA>AAA	p.E66K		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	66					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACGTCCCAAAGGTGAGAGCCC	0.512												
C9orf93	203238	broad.mit.edu	37	9	15745548	15745548	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:15745548C>A	uc003zmd.2	+	18	2905	c.2590C>A	c.(2590-2592)CTC>ATC	p.L864I	C9orf93_uc003zme.2_Missense_Mutation_p.L779I|C9orf93_uc011lmu.1_Missense_Mutation_p.L872I|C9orf93_uc003zmf.1_Missense_Mutation_p.L172I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	864											0				GBM - Glioblastoma multiforme(50;4.84e-07)		TTTACAAGCGCTCAGTTGGCT	0.328												
SLC24A2	25769	broad.mit.edu	37	9	19516162	19516162	+	Missense_Mutation	SNP	C	C	T	rs138630242		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:19516162C>T	uc003zoa.1	-	10	2037	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	SLC24A2_uc003zob.1_Missense_Mutation_p.V642I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	659	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAGATGGAGACGGGGCATGTA	0.378												
CDKN2A	1029	broad.mit.edu	37	9	21971114	21971114	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:21971114C>T	uc003zpk.2	-	2	456	c.244G>A	c.(244-246)GTG>ATG	p.V82M	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R137H	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	82	ANK 3.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.V82M(2)|p.V82V(1)|p.T79fs*37(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTCGTGCACGGGTCGGGTG	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
SMU1	55234	broad.mit.edu	37	9	33056197	33056197	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:33056197G>A	uc003zsf.1	-	9	1144	c.1036C>T	c.(1036-1038)CGT>TGT	p.R346C	SMU1_uc010mjo.1_Missense_Mutation_p.R346C|SMU1_uc010mjp.1_Missense_Mutation_p.R346C|SMU1_uc011lnu.1_Missense_Mutation_p.R185C	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog	346	WD 3.					cytoplasm|nucleus				ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GAATGGCCACGAAATTCCTTC	0.338												
KIAA1161	57462	broad.mit.edu	37	9	34370908	34370908	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:34370908G>A	uc003zue.3	-	3	2201	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	678	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ACTTGCCGGCGGGCAAATAGA	0.602												
CCIN	881	broad.mit.edu	37	9	36170715	36170715	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:36170715G>A	uc003zzb.3	+	1	1327	c.1216G>A	c.(1216-1218)GCA>ACA	p.A406T		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	406	Kelch 3.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CTGGTGCCTGGCAGGAAAGAT	0.542												
PRKACG	5568	broad.mit.edu	37	9	71628547	71628547	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:71628547G>T	uc004agy.2	-	1	493	c.462C>A	c.(460-462)GCC>GCA	p.A154A		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	154	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						GGTACTGGACGGCCAGGACGA	0.622												
PRKACG	5568	broad.mit.edu	37	9	71628605	71628605	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:71628605C>T	uc004agy.2	-	1	435	c.404G>A	c.(403-405)CGC>CAC	p.R135H		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	135	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CCTTCCGACGCGCTGTAGGCG	0.602												
SMC5	23137	broad.mit.edu	37	9	72913007	72913007	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:72913007C>T	uc004ahr.2	+	9	1296	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	393	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CGGAAAACTGCGAGAATCTTC	0.403												
FOXB2	442425	broad.mit.edu	37	9	79635850	79635850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:79635850C>T	uc004ako.1	+	1	1280	c.1280C>T	c.(1279-1281)TCG>TTG	p.S427L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	427					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TCCTTGCACTCGGTGCTAGTG	0.726												
ZCCHC6	79670	broad.mit.edu	37	9	88960693	88960693	+	Missense_Mutation	SNP	C	C	T	rs139153052		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:88960693C>T	uc004aoq.2	-	4	925	c.710G>A	c.(709-711)CGA>CAA	p.R237Q	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aou.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aov.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aow.2_Missense_Mutation_p.R237Q	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	237					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						AGGGTAGTTTCGTGGTCGCTA	0.363												
DAPK1	1612	broad.mit.edu	37	9	90315079	90315079	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:90315079C>T	uc004apc.2	+	24	2936	c.2798C>T	c.(2797-2799)GCT>GTT	p.A933V	DAPK1_uc004apd.2_Missense_Mutation_p.A933V|DAPK1_uc011ltg.1_Missense_Mutation_p.A867V|DAPK1_uc011lth.1_Missense_Mutation_p.A670V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	933					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GTTCTGGATGCTGGGGCTTCT	0.463									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
SECISBP2	79048	broad.mit.edu	37	9	91964832	91964832	+	Missense_Mutation	SNP	G	G	A	rs149816537		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:91964832G>A	uc004aqj.1	+	13	1960	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	SECISBP2_uc011ltk.1_Missense_Mutation_p.R626H|SECISBP2_uc004aqk.1_Missense_Mutation_p.R554H|SECISBP2_uc010mqo.1_Missense_Mutation_p.R332H|SECISBP2_uc011ltl.1_Missense_Mutation_p.R559H	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	627					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						ATCCACAGCCGCAGATTCAGG	0.552												
SEMA4D	10507	broad.mit.edu	37	9	92003589	92003589	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:92003589G>A	uc004aqo.1	-	13	1641	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	SEMA4D_uc011ltm.1_Missense_Mutation_p.R357C|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R355C	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	357	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCATTATAGCGCACCCACTTG	0.647												
IPPK	64768	broad.mit.edu	37	9	95397511	95397511	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95397511C>T	uc004asl.1	-	10	1273	c.996G>A	c.(994-996)CTG>CTA	p.L332L	IPPK_uc004ask.1_Silent_p.L31L	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	332					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CGATGTCCAGCAGGTCCAACA	0.577											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BICD2	23299	broad.mit.edu	37	9	95481295	95481295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95481295G>T	uc004aso.1	-	5	1689	c.1632C>A	c.(1630-1632)TGC>TGA	p.C544*	BICD2_uc004asp.1_Nonsense_Mutation_p.C544*	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	544					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TCTCATTGTTGCACATGCACA	0.672												
ZNF484	83744	broad.mit.edu	37	9	95610082	95610082	+	Silent	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95610082T>C	uc004asu.1	-	5	1136	c.987A>G	c.(985-987)AAA>AAG	p.K329K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.K331K|ZNF484_uc010mrb.1_Silent_p.K293K|ZNF484_uc004asv.1_Silent_p.K293K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	329	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTCACTGCATTTATAGTAAT	0.403												
C9orf89	84270	broad.mit.edu	37	9	95870092	95870092	+	Silent	SNP	G	G	A	rs146233245	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95870092G>A	uc004atd.2	+	2	322	c.144G>A	c.(142-144)GCG>GCA	p.A48A	C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	48	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding				0						ACAAGGAGGCGGAAAAGGTGC	0.577												
PHF2	5253	broad.mit.edu	37	9	96435920	96435920	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:96435920T>C	uc004aub.2	+	18	2549	c.2402T>C	c.(2401-2403)ATG>ACG	p.M801T	PHF2_uc011lug.1_Missense_Mutation_p.M684T|PHF2_uc004auc.2_Missense_Mutation_p.M221T	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	801					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ATGCTGTCCATGGCCAACCTG	0.672												
GABBR2	9568	broad.mit.edu	37	9	101340317	101340317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:101340317G>A	uc004ays.2	-	2	515	c.359C>T	c.(358-360)GCA>GTA	p.A120V		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	120	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTATTTTATTGCATCGTAGAA	0.493												
NR4A3	8013	broad.mit.edu	37	9	102590786	102590786	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:102590786G>A	uc004baf.1	+	3	1191	c.462G>A	c.(460-462)GCG>GCA	p.A154A	NR4A3_uc004bae.2_Silent_p.A154A|NR4A3_uc004bag.1_Silent_p.A154A|NR4A3_uc004bai.2_Silent_p.A165A	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	154					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGGCGGGGGCGTTATGGGACG	0.746			T	EWSR1	extraskeletal myxoid chondrosarcoma							
ALDOB	229	broad.mit.edu	37	9	104189783	104189783	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:104189783T>C	uc004bbk.2	-	5	603	c.521A>G	c.(520-522)TAC>TGC	p.Y174C		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	174					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GATGCTGGCGTAGCGAGCCAG	0.512												
ZNF462	58499	broad.mit.edu	37	9	109689819	109689819	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:109689819T>C	uc004bcz.2	+	3	3915	c.3626T>C	c.(3625-3627)CTC>CCC	p.L1209P	ZNF462_uc010mto.2_Missense_Mutation_p.L1057P|ZNF462_uc004bda.2_Missense_Mutation_p.L1057P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1209					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAAGGGGTACTCATTCATTAT	0.517												
ZNF462	58499	broad.mit.edu	37	9	109736549	109736549	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:109736549A>G	uc004bcz.2	+	9	7116	c.6827A>G	c.(6826-6828)CAC>CGC	p.H2276R	ZNF462_uc010mto.2_Missense_Mutation_p.H2185R|ZNF462_uc004bda.2_Missense_Mutation_p.H2184R|ZNF462_uc011lvz.1_Missense_Mutation_p.H233R|ZNF462_uc004bdb.1_Missense_Mutation_p.H184R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2276	C2H2-type 24.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATCGTGCTGCACCGAGGTAAC	0.547												
MUSK	4593	broad.mit.edu	37	9	113510017	113510017	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:113510017G>T	uc004bey.2	+	7	948	c.850G>T	c.(850-852)GCT>TCT	p.A284S	MUSK_uc004bex.2_Missense_Mutation_p.A294S	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	284	Ig-like 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CACATGCATAGCTACCAATAA	0.493												
KIAA0368	23392	broad.mit.edu	37	9	114151873	114151873	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:114151873G>A	uc004bfe.1	-	32	3944	c.3944C>T	c.(3943-3945)ACA>ATA	p.T1315I		NM_001080398	NP_001073867			KIAA0368 protein												0						CCAAATACTTGTCATGGCCTG	0.488												
HDHD3	81932	broad.mit.edu	37	9	116136420	116136420	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:116136420C>T	uc004bhi.1	-	2	999	c.215G>A	c.(214-216)CGC>CAC	p.R72H	HDHD3_uc004bhj.2_Missense_Mutation_p.R72H|HDHD3_uc004bhk.2_Missense_Mutation_p.R72H	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	72							phosphoglycolate phosphatase activity|protein binding				0						CCACCACTGGCGGGAGGTTAG	0.612												
TNC	3371	broad.mit.edu	37	9	117840373	117840373	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:117840373G>A	uc004bjj.3	-	7	2885	c.2523C>T	c.(2521-2523)GAC>GAT	p.D841D	TNC_uc010mvf.2_Silent_p.D841D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	841	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCTGGCACGTCTTTGATGC	0.542												
DBC1	1620	broad.mit.edu	37	9	121929407	121929407	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:121929407C>T	uc004bkc.2	-	8	2697	c.2241G>A	c.(2239-2241)ACG>ACA	p.T747T		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	747					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TGAGGATCTCCGTGTTGTACA	0.488												
STOM	2040	broad.mit.edu	37	9	124110298	124110298	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:124110298C>T	uc004blh.2	-	6	735	c.655G>A	c.(655-657)GCC>ACC	p.A219T	STOM_uc011lyk.1_Missense_Mutation_p.A168T|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	219	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GTTACCTTGGCGCGGGCCTCG	0.348												
PDCL	5082	broad.mit.edu	37	9	125585301	125585301	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:125585301A>C	uc004bmz.1	-	3	444	c.348T>G	c.(346-348)AGT>AGG	p.S116R	PDCL_uc004bna.2_Missense_Mutation_p.S116R	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	116					signal transduction|visual perception						0						TTACCTTCCCACTGATCTTCT	0.483												
SCAI	286205	broad.mit.edu	37	9	127781189	127781189	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:127781189A>G	uc004bpe.2	-	9	831	c.750T>C	c.(748-750)GTT>GTC	p.V250V	SCAI_uc004bpd.2_Silent_p.V273V|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	250					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						TCGATGTGATAACAATGGTAT	0.398												
ZBTB34	403341	broad.mit.edu	37	9	129642876	129642876	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:129642876G>A	uc004bqm.3	+	2	1283	c.1186G>A	c.(1186-1188)GGA>AGA	p.G396R		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTCCATATGGGAATCACCCC	0.488												
LCN2	3934	broad.mit.edu	37	9	130913968	130913968	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:130913968C>T	uc004bto.1	+	3	400	c.327C>T	c.(325-327)CCC>CCT	p.P109P	LCN2_uc011map.1_Silent_p.P109P	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	109					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GTTGCCAGCCCGGCGAGTTCA	0.587												
SLC27A4	10999	broad.mit.edu	37	9	131105530	131105530	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:131105530G>A	uc004but.2	+	2	403	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SLC27A4_uc004buu.2_Silent_p.A67A	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	40	Helical; (Potential).				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GGCGGCTGGCGCTTCATCCGG	0.587												
CRAT	1384	broad.mit.edu	37	9	131864692	131864692	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:131864692A>G	uc004bxh.2	-	5	899	c.617T>C	c.(616-618)GTA>GCA	p.V206A	CRAT_uc004bxg.2_Missense_Mutation_p.V185A|CRAT_uc004bxk.3_Missense_Mutation_p.V185A	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	206					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTAGTTGTGTACCACGGTGAT	0.627												
ABL1	25	broad.mit.edu	37	9	133738296	133738296	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:133738296C>T	uc004bzw.2	+	4	699	c.696C>T	c.(694-696)TAC>TAT	p.Y232Y	ABL1_uc004bzv.2_Silent_p.Y251Y|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	232					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCCAACTACGACAAGTGGG	0.577			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
FAM78A	286336	broad.mit.edu	37	9	134151373	134151373	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:134151373C>T	uc004cak.2	-	1	534	c.194G>A	c.(193-195)CGG>CAG	p.R65Q		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	65										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GTGGGGTGTCCGGTAGCGGAG	0.622												
TSC1	7248	broad.mit.edu	37	9	135771922	135771922	+	Silent	SNP	C	C	T	rs118203746		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135771922C>T	uc004cca.2	-	23	3429	c.3195G>A	c.(3193-3195)ACG>ACA	p.T1065T	TSC1_uc004ccb.3_Silent_p.T1064T|TSC1_uc011mcq.1_Silent_p.T1014T|TSC1_uc011mcr.1_Missense_Mutation_p.R258Q	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1065					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCCCATAGTCGTCTCCCACC	0.502			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
GTF3C5	9328	broad.mit.edu	37	9	135927498	135927498	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135927498A>G	uc004cci.3	+	5	1157	c.820A>G	c.(820-822)AGC>GGC	p.S274G	GTF3C5_uc010mzz.2_Missense_Mutation_p.S149G|GTF3C5_uc004ccj.3_Missense_Mutation_p.S274G	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	274						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCAACATCAGCGTCCACCC	0.567												
CEL	1056	broad.mit.edu	37	9	135940544	135940544	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135940544G>A	uc010naa.1	+	4	483	c.467G>A	c.(466-468)CGC>CAC	p.R156H		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	153					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCGCCACACGCGGAAACGTC	0.607												
CEL	1056	broad.mit.edu	37	9	135940576	135940576	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135940576C>T	uc010naa.1	+	4	515	c.499C>T	c.(499-501)CGT>TGT	p.R167C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	164					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTTCAACTACCGTGTCGGCCC	0.637												
SARDH	1757	broad.mit.edu	37	9	136573535	136573535	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:136573535C>T	uc004cep.3	-	11	1478	c.1344G>A	c.(1342-1344)TCG>TCA	p.S448S	SARDH_uc004ceo.2_Silent_p.S448S|SARDH_uc011mdn.1_Silent_p.S448S|SARDH_uc011mdo.1_Silent_p.S280S	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	448					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTCCGTGAGCGAGTGATGGA	0.662												
RXRA	6256	broad.mit.edu	37	9	137300840	137300840	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:137300840C>T	uc004cfb.2	+	4	647	c.485C>T	c.(484-486)ACG>ATG	p.T162M	RXRA_uc004cfc.1_Missense_Mutation_p.T65M	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	162	Nuclear receptor.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TTCAAGCGGACGGTGCGCAAG	0.647												
KIAA0649	9858	broad.mit.edu	37	9	138379776	138379776	+	Silent	SNP	C	C	T	rs141953847	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138379776C>T	uc004cfr.1	+	4	3969	c.3420C>T	c.(3418-3420)GAC>GAT	p.D1140D		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	1140						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAAAGAAGGACGGCGGCCCCT	0.637												
KCNT1	57582	broad.mit.edu	37	9	138657599	138657599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138657599C>T	uc011mdq.1	+	13	1404	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	KCNT1_uc011mdr.1_Nonsense_Mutation_p.R271*|KCNT1_uc010nbf.2_Nonsense_Mutation_p.R399*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.R193*	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	444						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACCTCATGCGAGCCAAGTG	0.637												
CAMSAP1	157922	broad.mit.edu	37	9	138703236	138703236	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138703236A>C	uc004cgr.3	-	17	4728	c.4728T>G	c.(4726-4728)AGT>AGG	p.S1576R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.S1466R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.S1298R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1576	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGTCCACACTGACAGACA	0.512												
QSOX2	169714	broad.mit.edu	37	9	139137477	139137477	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139137477G>A	uc010nbi.2	-	1	211	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	58	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GTCCTCGCCCGCGCGGTACAg	0.488												
NOTCH1	4851	broad.mit.edu	37	9	139396207	139396207	+	Silent	SNP	G	G	A	rs35627681		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139396207G>A	uc004chz.2	-	30	5631	c.5631C>T	c.(5629-5631)CGC>CGT	p.R1877R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1877	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TACCAGGCCCGCGGACATTGA	0.667			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
CACNA1B	774	broad.mit.edu	37	9	141015984	141015984	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:141015984G>A	uc004cog.2	+	46	6698	c.6553G>A	c.(6553-6555)GGT>AGT	p.G2185S	CACNA1B_uc004coi.2_Missense_Mutation_p.G1397S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2185	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCCGGCCGCGGTGGGCGGAG	0.617												
NLGN4X	57502	broad.mit.edu	37	X	5821684	5821684	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:5821684G>A	uc010ndh.2	-	5	1536	c.1035C>T	c.(1033-1035)GAC>GAT	p.D345D	NLGN4X_uc004crp.2_Silent_p.D365D|NLGN4X_uc004crq.2_Silent_p.D345D|NLGN4X_uc010ndi.2_Silent_p.D382D|NLGN4X_uc004crr.2_Silent_p.D345D|NLGN4X_uc010ndj.2_Silent_p.D345D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	345	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TGACGTCGCCGTCGATCACCG	0.587												
STS	412	broad.mit.edu	37	X	7268249	7268249	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:7268249G>A	uc004cry.3	+	10	1944	c.1699G>A	c.(1699-1701)GGC>AGC	p.G567S		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	567	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCTTCCACCGGCCTGTCTTG	0.552									Ichthyosis			
KAL1	3730	broad.mit.edu	37	X	8504931	8504931	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:8504931G>A	uc004csf.2	-	11	1652	c.1502C>T	c.(1501-1503)ACT>ATT	p.T501I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	501	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TGGTTGGACAGTCACCTTATA	0.413												
WWC3	55841	broad.mit.edu	37	X	10085333	10085333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:10085333C>T	uc004csx.3	+	11	1432	c.1234C>T	c.(1234-1236)CGC>TGC	p.R412C	WWC3_uc010nds.2_Missense_Mutation_p.R76C|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	412	Ser-rich.									ovary(4)	4						CCAGCTTCTACGCTTCGACCT	0.652												
HCCS	3052	broad.mit.edu	37	X	11139095	11139095	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:11139095G>A	uc004cuk.2	+	6	856	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	HCCS_uc004cuj.2_Missense_Mutation_p.R197Q|HCCS_uc004cul.1_Missense_Mutation_p.R197Q	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	197					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						CCAAGGGCACGAATTCGTTCC	0.453												
TLR7	51284	broad.mit.edu	37	X	12904062	12904062	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:12904062C>T	uc004cvc.2	+	3	574	c.435C>T	c.(433-435)GGC>GGT	p.G145G		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	145	Extracellular (Potential).|LRR 4.				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			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	TACCGCAGGGCCTCCCGCCTA	0.453												
GLRA2	2742	broad.mit.edu	37	X	14748344	14748344	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:14748344C>T	uc010nep.2	+	10	1428	c.1096C>T	c.(1096-1098)CGT>TGT	p.R366C	GLRA2_uc010neq.2_Missense_Mutation_p.R366C|GLRA2_uc004cwe.3_Missense_Mutation_p.R366C|GLRA2_uc011mio.1_Missense_Mutation_p.R277C|GLRA2_uc011mip.1_Missense_Mutation_p.R344C	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	366	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGACGTTACTCGTGAAAGTCG	0.443												
SH3KBP1	30011	broad.mit.edu	37	X	19560113	19560113	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:19560113C>T	uc004czm.2	-	16	2138	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	SH3KBP1_uc011mje.1_Missense_Mutation_p.A347T|SH3KBP1_uc011mjf.1_Missense_Mutation_p.A370T|SH3KBP1_uc004czl.2_Missense_Mutation_p.A571T|SH3KBP1_uc010nfm.2_Missense_Mutation_p.A53T	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	608	Potential.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						TCCTCCACGGCCGCCTGGCTG	0.612												
SH3KBP1	30011	broad.mit.edu	37	X	19560254	19560254	+	Missense_Mutation	SNP	C	C	T	rs113170456	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:19560254C>T	uc004czm.2	-	16	1997	c.1681G>A	c.(1681-1683)GGT>AGT	p.G561S	SH3KBP1_uc011mje.1_Missense_Mutation_p.G300S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.G323S|SH3KBP1_uc004czl.2_Missense_Mutation_p.G524S|SH3KBP1_uc010nfm.2_Missense_Mutation_p.G6S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	561					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GCTGGCCCACCGCCACCTGCT	0.657												
RPS6KA3	6197	broad.mit.edu	37	X	20195138	20195138	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:20195138T>C	uc004czu.2	-	11	910	c.910A>G	c.(910-912)AAG>GAG	p.K304E	RPS6KA3_uc011mjk.1_Missense_Mutation_p.K275E|RPS6KA3_uc004czv.2_Missense_Mutation_p.K292E|RPS6KA3_uc011mjl.1_Missense_Mutation_p.K276E|RPS6KA3_uc011mjm.1_Missense_Mutation_p.K276E	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	304	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						GGATTTCGCTTGAAAAGCATT	0.318												
KLHL34	257240	broad.mit.edu	37	X	21675899	21675899	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:21675899T>C	uc004czz.1	-	1	550	c.8A>G	c.(7-9)TAC>TGC	p.Y3C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	3										ovary(1)	1						AGACAGGAAGTAACTCATTCT	0.677												
ZNF645	158506	broad.mit.edu	37	X	22291397	22291397	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:22291397C>T	uc004dai.1	+	1	338	c.289C>T	c.(289-291)CGT>TGT	p.R97C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	97	RING-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TCCGCGCTGTCGTTATCCTGT	0.398												
PTCHD1	139411	broad.mit.edu	37	X	23411097	23411097	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:23411097A>G	uc004dal.3	+	3	1470	c.1462A>G	c.(1462-1464)AAA>GAA	p.K488E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	488					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						ATGTTTCCTCAAACGCTATTA	0.443												
NR0B1	190	broad.mit.edu	37	X	30327182	30327182	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:30327182G>A	uc004dcf.3	-	1	314	c.299C>T	c.(298-300)ACG>ATG	p.T100M		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	100	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGACCCAGCGTCGCCTCGGG	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DMD	1756	broad.mit.edu	37	X	31496273	31496273	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:31496273C>T	uc004dda.1	-	59	9131	c.8887G>A	c.(8887-8889)GTG>ATG	p.V2963M	DMD_uc004dcq.1_Missense_Mutation_p.V234M|DMD_uc004dcr.1_Missense_Mutation_p.V503M|DMD_uc004dcs.1_Missense_Mutation_p.V503M|DMD_uc004dct.1_Missense_Mutation_p.V503M|DMD_uc004dcu.1_Missense_Mutation_p.V503M|DMD_uc004dcv.1_Missense_Mutation_p.V503M|DMD_uc004dcw.2_Missense_Mutation_p.V1619M|DMD_uc004dcx.2_Missense_Mutation_p.V1622M|DMD_uc004dcz.2_Missense_Mutation_p.V2840M|DMD_uc004dcy.1_Missense_Mutation_p.V2959M|DMD_uc004ddb.1_Missense_Mutation_p.V2955M	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2963	Spectrin 22.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGATCGCCCACGGGCTGCCAG	0.537												
FAM47A	158724	broad.mit.edu	37	X	34148203	34148203	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:34148203G>A	uc004ddg.2	-	1	2226	c.2193C>T	c.(2191-2193)GAC>GAT	p.D731D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	731										ovary(4)|central_nervous_system(1)	5						CATAAAGATCGTCAAGAACGT	0.433												
TMEM47	83604	broad.mit.edu	37	X	34648577	34648577	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:34648577G>A	uc004ddh.2	-	3	658	c.399C>T	c.(397-399)TAC>TAT	p.Y133Y	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	133	Helical; (Potential).					integral to membrane				lung(1)	1						ACTTGATTGGGTAAAGGACCA	0.363												
BCOR	54880	broad.mit.edu	37	X	39916518	39916518	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:39916518G>A	uc004den.3	-	11	4777	c.4485C>T	c.(4483-4485)AAC>AAT	p.N1495N	BCOR_uc004dep.3_Silent_p.N1461N|BCOR_uc004deo.3_Silent_p.N1443N|BCOR_uc010nhb.2_Silent_p.N203N|BCOR_uc004dem.3_Silent_p.N1461N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1495	ANK 1.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AGTAACCTGCGTTGTCCCGAT	0.517												
UBA1	7317	broad.mit.edu	37	X	47060960	47060960	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:47060960G>T	uc004dhj.3	+	8	913	c.762G>T	c.(760-762)CAG>CAT	p.Q254H	UBA1_uc004dhk.3_Missense_Mutation_p.Q254H	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	254	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CAGAAGTACAGGGCATGGTTG	0.537												
ZNF182	7569	broad.mit.edu	37	X	47842802	47842802	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:47842802T>C	uc004dir.2	-	5	428	c.82A>G	c.(82-84)ACA>GCA	p.T28A	ZNF182_uc004dis.2_Missense_Mutation_p.T9A|ZNF182_uc004dit.2_Missense_Mutation_p.T28A|ZNF182_uc011mlu.1_Missense_Mutation_p.T9A|ZNF630_uc010nhz.1_RNA	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TCTTCAAATGTCACTAGCCCC	0.468												
NUDT11	55190	broad.mit.edu	37	X	51239053	51239053	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:51239053C>T	uc010njt.2	-	1	407	c.244G>A	c.(244-246)GTC>ATC	p.V82I		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	nudix-type motif 11	82	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TGTTCGAAGACGCCCAGGAGC	0.617										HNSCC(48;0.14)		
GPR173	54328	broad.mit.edu	37	X	53106555	53106555	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:53106555G>A	uc004dru.2	+	2	1010	c.752G>A	c.(751-753)CGT>CAT	p.R251H		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	251	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GGCTTTGGCCGTGGGCCCATG	0.647												
PFKFB1	5207	broad.mit.edu	37	X	54978349	54978349	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:54978349G>A	uc004dty.1	-	8	906	c.835C>T	c.(835-837)CGC>TGC	p.R279C	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R214C	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	279	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TGCTTGCCGCGAACTGAGAGG	0.592												
RRAGB	10325	broad.mit.edu	37	X	55777621	55777621	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:55777621C>A	uc004dup.2	+	7	1339	c.688C>A	c.(688-690)CTC>ATC	p.L230I	RRAGB_uc004duq.2_Missense_Mutation_p.L202I	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	230					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						GGATGAAACCCTCTATAAGGT	0.348												
P2RY4	5030	broad.mit.edu	37	X	69478463	69478463	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:69478463C>A	uc004dxz.1	-	1	1192	c.1012G>T	c.(1012-1014)GTG>TTG	p.V338L		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	338	Cytoplasmic (Potential).			SSLALVSLPEDSSCRWAATPQDSSCST->AALALVALPEDA ACRWAAAPQDAACAA: Greatly reduces agonist- induced desensitization and loss of cell surface receptors.|Missing: Abolishes agonist-induced phosphorylation. Prevents agonist-induced desensitization and loss of cell surface receptors.	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						GGCAGGGACACTAGTGCCAGG	0.622												
MED12	9968	broad.mit.edu	37	X	70341237	70341237	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70341237C>T	uc004dyy.2	+	6	995	c.796C>T	c.(796-798)CGC>TGC	p.R266C	MED12_uc011mpq.1_Missense_Mutation_p.R266C|MED12_uc004dyz.2_Missense_Mutation_p.R266C|MED12_uc004dza.2_Missense_Mutation_p.R113C	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	266					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGAGAAGATCCGCCCTGGAGA	0.512												
TAF1	6872	broad.mit.edu	37	X	70586333	70586333	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70586333G>A	uc004dzu.3	+	1	220	c.169G>A	c.(169-171)GTC>ATC	p.V57I	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V57I	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	57	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GGGGGAAAGCGTCTTGGATGA	0.627												
OGT	8473	broad.mit.edu	37	X	70787390	70787390	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70787390G>A	uc004eaa.1	+	20	2847	c.2630G>A	c.(2629-2631)CGT>CAT	p.R877H	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.R867H|OGT_uc004eac.2_Missense_Mutation_p.R738H|OGT_uc004ead.2_Missense_Mutation_p.R496H	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	877					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TGGCTGTTGCGTTTTCCAGCA	0.393												
RGAG4	340526	broad.mit.edu	37	X	71349880	71349880	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71349880C>T	uc010nlh.1	-	1	1872	c.1511G>A	c.(1510-1512)AGC>AAC	p.S504N	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	504										ovary(2)|skin(1)	3	Renal(35;0.156)					CCTCCGTCTGCTAGGCTGTAT	0.562												
NHSL2	340527	broad.mit.edu	37	X	71358762	71358762	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71358762C>T	uc011mqa.1	+	6	1364	c.1364C>T	c.(1363-1365)GCT>GTT	p.A455V	NHSL2_uc004eak.1_Missense_Mutation_p.A89V|NHSL2_uc010nli.2_Missense_Mutation_p.A224V	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	455											0	Renal(35;0.156)					AGTGGGTCAGCTGGCTACCCT	0.567												
PHKA1	5255	broad.mit.edu	37	X	71873292	71873292	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71873292G>A	uc004eax.3	-	11	1431	c.1130C>T	c.(1129-1131)CCT>CTT	p.P377L	PHKA1_uc004eay.3_Missense_Mutation_p.P377L|PHKA1_uc011mqi.1_Missense_Mutation_p.P377L	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	377					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CACCCTGTCAGGAGGAACACT	0.428												
KIAA2022	340533	broad.mit.edu	37	X	73963374	73963374	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:73963374T>C	uc004eby.2	-	3	1635	c.1018A>G	c.(1018-1020)AGC>GGC	p.S340G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	340					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTAAAGACGCTGGGAAAAAAG	0.463												
POU3F4	5456	broad.mit.edu	37	X	82763850	82763850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:82763850G>A	uc004eeg.2	+	1	582	c.518G>A	c.(517-519)GGC>GAC	p.G173D		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	173					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGGATCACGGCGAACTGGGC	0.607												
CHM	1121	broad.mit.edu	37	X	85211332	85211332	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:85211332G>T	uc004eet.2	-	8	1022	c.992C>A	c.(991-993)CCC>CAC	p.P331H	CHM_uc011mqz.1_Missense_Mutation_p.P183H	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	331					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				TTGGAGGTTGGGGGTTAATTT	0.328												
CPXCR1	53336	broad.mit.edu	37	X	88008656	88008656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:88008656C>T	uc004efd.3	+	3	500	c.241C>T	c.(241-243)CGA>TGA	p.R81*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.R81*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	81						intracellular	zinc ion binding			ovary(3)	3						AAAAGATCAACGAGAAGAAGA	0.458												
PABPC5	140886	broad.mit.edu	37	X	90691323	90691323	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:90691323C>T	uc004efg.2	+	2	1187	c.747C>T	c.(745-747)CAC>CAT	p.H249H	PABPC5_uc004eff.1_Silent_p.H85H	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	249	RRM 3.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						ATGAGACACACGAGGCTGCCC	0.453												
SYTL4	94121	broad.mit.edu	37	X	99931117	99931117	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:99931117G>T	uc004egd.3	-	19	2280	c.1924C>A	c.(1924-1926)CTG>ATG	p.L642M	SYTL4_uc004egc.2_Missense_Mutation_p.L73M|SYTL4_uc010nnb.2_Missense_Mutation_p.L314M|SYTL4_uc010nnc.2_Missense_Mutation_p.L642M|SYTL4_uc004ege.3_Missense_Mutation_p.L642M|SYTL4_uc004egf.3_Missense_Mutation_p.L642M	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	642					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCCACAGGCTCACTTCT	0.562												
ZMAT1	84460	broad.mit.edu	37	X	101138596	101138596	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:101138596G>A	uc004eim.2	-	2	4788	c.1290C>T	c.(1288-1290)AGC>AGT	p.S430S	ZMAT1_uc011mrl.1_Silent_p.S601S|ZMAT1_uc004ein.2_Silent_p.S430S|ZMAT1_uc011mrm.1_Silent_p.S430S	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	430						nucleus	zinc ion binding			ovary(1)	1						GTACATCATGGCTTTTTTTCT	0.398												
GPRASP1	9737	broad.mit.edu	37	X	101912159	101912159	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:101912159G>A	uc004ejj.3	+	5	4119	c.3318G>A	c.(3316-3318)CAG>CAA	p.Q1106Q	GPRASP1_uc004eji.3_Silent_p.Q1106Q|GPRASP1_uc010nod.2_Silent_p.Q1106Q	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1106	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGCCTGATCAGCCTAGTCCTG	0.483												
BEX1	55859	broad.mit.edu	37	X	102318161	102318161	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:102318161C>T	uc004ejt.1	-	3	282	c.42G>A	c.(40-42)ATG>ATA	p.M14I		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	14					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1						TGGCATTTTCCATGCTGAGAC	0.478												
RAB9B	51209	broad.mit.edu	37	X	103080513	103080513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:103080513G>A	uc004ell.1	-	3	487	c.202C>T	c.(202-204)CGT>TGT	p.R68C	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	68					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						CTCTTGAAACGTTCCTGCCCT	0.522												
MCART6	401612	broad.mit.edu	37	X	103349129	103349129	+	Missense_Mutation	SNP	C	C	T	rs141959264	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:103349129C>T	uc004elu.2	-	2	993	c.812G>A	c.(811-813)CGT>CAT	p.R271H		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	271	Solcar 3.|Helical; Name=6; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0						GGAGCCTCCACGGTAGATCAG	0.557												
MUM1L1	139221	broad.mit.edu	37	X	105449632	105449632	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:105449632A>G	uc004emf.1	+	4	856	c.207A>G	c.(205-207)TCA>TCG	p.S69S	MUM1L1_uc004emg.1_Silent_p.S69S	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	69										ovary(2)|pancreas(1)|skin(1)	4						TTGCTGCCTCATTAGGACTAC	0.388												
MORC4	79710	broad.mit.edu	37	X	106236506	106236506	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:106236506C>T	uc004emu.3	-	3	505	c.262G>A	c.(262-264)GAT>AAT	p.D88N	MORC4_uc004emp.3_5'UTR|MORC4_uc004emv.3_Missense_Mutation_p.D88N|MORC4_uc004emw.3_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	88							ATP binding|zinc ion binding			ovary(1)	1						CATCCATCATCGGTAAAGGTC	0.388												
IRS4	8471	broad.mit.edu	37	X	107976125	107976125	+	Silent	SNP	G	G	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:107976125G>T	uc004eoc.2	-	1	3483	c.3450C>A	c.(3448-3450)GCC>GCA	p.A1150A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1150	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CAGCAGCTGCGGCTGCTGCGC	0.657												
AMMECR1	9949	broad.mit.edu	37	X	109561047	109561047	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:109561047G>A	uc004eoo.2	-	1	334	c.253C>T	c.(253-255)CTG>TTG	p.L85L	AMMECR1_uc004eop.2_Silent_p.L85L|AMMECR1_uc004eoq.2_5'UTR	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	85											0						GGTGGCGACAGGGCGATCCCC	0.721												
LHFPL1	340596	broad.mit.edu	37	X	111914299	111914299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:111914299C>T	uc004epq.2	-	2	653	c.320G>A	c.(319-321)TGC>TAC	p.C107Y	LHFPL1_uc004epp.2_Missense_Mutation_p.C130Y|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.C107Y	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	107						integral to membrane					0						CTCCTCCATGCAGCAACCCAG	0.582												
ZBTB33	10009	broad.mit.edu	37	X	119387796	119387796	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:119387796G>A	uc004esn.1	+	2	754	c.526G>A	c.(526-528)GAA>AAA	p.E176K	ZBTB33_uc010nqm.1_Missense_Mutation_p.E176K	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	176					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTATCTGCCGAAGATTATGA	0.333												
THOC2	57187	broad.mit.edu	37	X	122799612	122799612	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:122799612T>C	uc004etu.2	-	12	1299	c.1267A>G	c.(1267-1269)AGC>GGC	p.S423G	THOC2_uc011muh.1_Missense_Mutation_p.S344G|THOC2_uc011mui.1_Missense_Mutation_p.S308G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	423					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCTTCAAAGCTCTCAGCTTGT	0.388												
ODZ1	10178	broad.mit.edu	37	X	123554484	123554484	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:123554484C>T	uc004euj.2	-	24	4702	c.4638G>A	c.(4636-4638)CAG>CAA	p.Q1546Q	ODZ1_uc011muj.1_Silent_p.Q1552Q|ODZ1_uc010nqy.2_Silent_p.Q1553Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1546	YD 1.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTACAGTGAACTGGTACAGTT	0.443												
SMARCA1	6594	broad.mit.edu	37	X	128614736	128614736	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:128614736C>T	uc004eun.3	-	19	2497	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H	SMARCA1_uc004eup.3_Missense_Mutation_p.R783H|SMARCA1_uc011muk.1_Missense_Mutation_p.R795H|SMARCA1_uc011mul.1_Missense_Mutation_p.R783H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	795					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						CTCAAATAAGCGTGGTGGGAA	0.313												
SASH3	54440	broad.mit.edu	37	X	128927705	128927705	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:128927705G>A	uc011mun.1	+	8	1222	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	SASH3_uc004euu.2_Missense_Mutation_p.R347H|SASH3_uc011muo.1_Missense_Mutation_p.R314H	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	347										ovary(2)|pancreas(1)	3						GACATCCCGCGCGACTCAGGC	0.677												
MAP7D3	79649	broad.mit.edu	37	X	135328224	135328224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:135328224C>T	uc004ezt.2	-	3	344	c.253G>A	c.(253-255)GCC>ACC	p.A85T	MAP7D3_uc004ezs.2_Missense_Mutation_p.A84T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A67T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A84T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	85	Potential.					cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAAAATATACCGTCTTGCTGT	0.289												
ZIC3	7547	broad.mit.edu	37	X	136649822	136649822	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:136649822C>T	uc004fak.2	+	1	1477	c.972C>T	c.(970-972)GGC>GGT	p.G324G		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	324					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGCACACGGGCGAGAAGCCCT	0.572												
SOX3	6658	broad.mit.edu	37	X	139586357	139586357	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:139586357G>A	uc004fbd.1	-	1	869	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	290	Poly-Pro.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					cggcggcggcgggcTGCTCAT	0.552												
SLITRK2	84631	broad.mit.edu	37	X	144905987	144905987	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:144905987G>A	uc004fcd.2	+	5	3034	c.2044G>A	c.(2044-2046)GGC>AGC	p.G682S	SLITRK2_uc010nsp.2_Missense_Mutation_p.G682S|SLITRK2_uc010nso.2_Missense_Mutation_p.G682S|SLITRK2_uc011mwq.1_Missense_Mutation_p.G682S|SLITRK2_uc011mwr.1_Missense_Mutation_p.G682S|SLITRK2_uc011mws.1_Missense_Mutation_p.G682S|SLITRK2_uc004fcg.2_Missense_Mutation_p.G682S|SLITRK2_uc011mwt.1_Missense_Mutation_p.G682S|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	682	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAACAGACGGCCATGTCTA	0.488												
AFF2	2334	broad.mit.edu	37	X	148059471	148059471	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:148059471T>C	uc004fcp.2	+	17	3892	c.3413T>C	c.(3412-3414)ATG>ACG	p.M1138T	AFF2_uc004fcq.2_Missense_Mutation_p.M1128T|AFF2_uc004fcr.2_Missense_Mutation_p.M1099T|AFF2_uc011mxb.1_Missense_Mutation_p.M1103T|AFF2_uc004fcs.2_Missense_Mutation_p.M1103T|AFF2_uc011mxc.1_Missense_Mutation_p.M779T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1138					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTATGCAATGAGGCTGAAG	0.423												
IDS	3423	broad.mit.edu	37	X	148585690	148585690	+	Silent	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:148585690C>T	uc011mxe.1	-	2	435	c.237G>A	c.(235-237)GCG>GCA	p.A79A	IDS_uc011mxf.1_Missense_Mutation_p.R4H|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Silent_p.A79A|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Silent_p.A79A	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACATACCTGCGCAAAGGCAT	0.572												
MAGEA8	4107	broad.mit.edu	37	X	149012986	149012986	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:149012986C>A	uc004fdw.1	+	3	155	c.-60C>A	c.(-62--58)GCCTG>GCATG			NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8												0	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCAGGCCTGTGGGTCTC	0.572												
PNMA3	29944	broad.mit.edu	37	X	152226687	152226687	+	Silent	SNP	A	A	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152226687A>G	uc004fhc.2	+	2	1611	c.1275A>G	c.(1273-1275)GTA>GTG	p.V425V	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	425	CCHC-type.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCAGGGTACAGTGCATCA	0.562												
ZNF275	10838	broad.mit.edu	37	X	152612323	152612323	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152612323G>A	uc004fhg.1	+	4	357	c.180G>A	c.(178-180)CAG>CAA	p.Q60Q	ZNF275_uc011mym.1_Silent_p.Q60Q|ZNF275_uc011myn.1_5'UTR			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	60						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGCCCAGCCACAGGAGA	0.582												
ZNF275	10838	broad.mit.edu	37	X	152612855	152612855	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152612855G>A	uc004fhg.1	+	4	889	c.712G>A	c.(712-714)GCC>ACC	p.A238T	ZNF275_uc011mym.1_Missense_Mutation_p.A238T|ZNF275_uc011myn.1_Missense_Mutation_p.A175T			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	238						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCCTTTCGCCTGCAAGGC	0.577												
FLNA	2316	broad.mit.edu	37	X	153578054	153578054	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153578054G>A	uc004fkk.2	-	46	7764	c.7515C>T	c.(7513-7515)TAC>TAT	p.Y2505Y	FLNA_uc004fki.2_Silent_p.Y545Y|FLNA_uc011mzn.1_Silent_p.Y638Y|FLNA_uc010nuu.1_Silent_p.Y2497Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2505	Filamin 23.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAATGTGGTAGGGGCCGC	0.617												
GDI1	2664	broad.mit.edu	37	X	153667454	153667454	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153667454T>C	uc004fli.3	+	4	698	c.356T>C	c.(355-357)GTG>GCG	p.V119A	GDI1_uc011mzo.1_Missense_Mutation_p.V119A|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	119					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCTACAAAGTGCCGTCCACT	0.557												
PLXNA3	55558	broad.mit.edu	37	X	153688788	153688788	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153688788C>T	uc004flm.2	+	2	438	c.265C>T	c.(265-267)CGC>TGC	p.R89C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	89	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTGCCCACCGCCTGGCCCC	0.687												
DKC1	1736	broad.mit.edu	37	X	153996672	153996672	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153996672C>A	uc004fmm.2	+	8	946	c.736C>A	c.(736-738)CTT>ATT	p.L246I	DKC1_uc010nvf.2_Missense_Mutation_p.L246I|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	246					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATGCAGGAGCTTCGGAGGGT	0.483									Congenital_Dyskeratosis			
RAB39B	116442	broad.mit.edu	37	X	154490502	154490502	+	Silent	SNP	G	G	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:154490502G>A	uc004fne.2	-	2	507	c.228C>T	c.(226-228)CGC>CGT	p.R76R		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTAGTAGGCGCGAGTGATGG	0.428												
ERO1LB	56605	broad.mit.edu	37	1	236393553	236393554	+	Splice_Site	DEL	GA	GA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:236393552_236393553TGA>T	uc001hxt.3	-	10	942	c.686_splice	c.e10-1	p.G229_splice		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	229					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATGATTCTCCTGAGAGAGAGAG	0.302												
SCN3A	6328	broad.mit.edu	37	2	165987930	165987931	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:165987929_165987930T>TA	uc002ucx.3	-	16	2884	c.2392_splice	c.e16-1	p.V798_splice	SCN3A_uc002ucy.3_Splice_Site_p.V749_splice|SCN3A_uc002ucz.3_Splice_Site_p.V749_splice|SCN3A_uc002uda.1_Splice_Site_p.V618_splice|SCN3A_uc002udb.1_Splice_Site_p.V618_splice	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAAAGACCTAAAAAATAGAG	0.327												
GTF3C3	9330	broad.mit.edu	37	2	197650315	197650315	+	Splice_Site	DEL	A	A	-	rs35643383		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGTAACTCCTAAAAAAAAGT	0.323												
ATP8A1	10396	broad.mit.edu	37	4	42576727	42576727	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:42576726_42576726TA>T	uc003gwr.2	-	14	1439	c.1207_splice	c.e14-1	p.V403_splice	ATP8A1_uc003gws.2_Splice_Site_p.V403_splice|ATP8A1_uc011byz.1_Splice_Site_p.V403_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	403					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTATTTAACCTAAAAAAGTTT	0.338												
GLRX	2745	broad.mit.edu	37	5	95152333	95152334	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:95152332_95152333T>TA	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCACA	0.411												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542524	+	Splice_Site	DEL	AA	AA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:86542522_86542523TAA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGAG	0.416												
NBN	4683	broad.mit.edu	37	8	90949256	90949256	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:90949255_90949255TA>T	uc003yej.1	-	15	2344	c.2234_splice	c.e15+1	p.R745_splice	NBN_uc011lgb.1_Splice_Site_p.D738_splice|NBN_uc003yei.1_Splice_Site_p.R663_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	745					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAACTTTACCTAAAAAGATCA	0.299								Homologous recombination				
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
RIC3	79608	broad.mit.edu	37	11	8159021	8159021	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:8159020_8159020TA>T	uc010rbm.1	-	4	482	c.428_splice	c.e4-1	p.T143_splice	RIC3_uc001mgb.2_Splice_Site|RIC3_uc010rbl.1_Splice_Site_p.T93_splice|RIC3_uc001mgd.2_Splice_Site_p.T143_splice|RIC3_uc001mgc.2_Splice_Site_p.T143_splice|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	143						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAAAACTGGCTAAAAAATAAG	0.388												
TCP11L1	55346	broad.mit.edu	37	11	33087372	33087375	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:33087371_33087374TACAG>T	uc001mud.3	+	8	1373	c.973_splice	c.e8-2	p.T325_splice	TCP11L1_uc009yju.3_Splice_Site_p.T140_splice|TCP11L1_uc010rei.2_Splice_Site_p.T325_splice|TCP11L1_uc001mue.3_Splice_Site_p.T325_splice|TCP11L1_uc001muf.1_Splice_Site	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	325										kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCTATTCATTACAGACAGTTTTA	0.593											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRT2	3849	broad.mit.edu	37	12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53044121_53044123ACTT>A	uc001sat.3	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	267	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTGCCACCTACTTCTTCTTATA	0.453												
CCDC70	83446	broad.mit.edu	37	13	52439693	52439693	+	RNA	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:52439692_52439692GA>G	uc010tgr.1	-	0		c.528_528TC>C			CCDC70_uc001vfu.4_Frame_Shift_Del_p.E60fs|CCDC70_uc021rjv.1_Frame_Shift_Del_p.E60fs			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AATTTTTCGTGAAAAAATAGA	0.498												
OLFM4	10562	broad.mit.edu	37	13	53608482	53608484	+	Splice_Site	DEL	GTT	GTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:53608481_53608483AGTT>A	uc001vhl.3	+	2	301	c.205_splice	c.e2-1	p.L69_splice	OLFM4_uc001vhk.2_Splice_Site_p.L69_splice	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	69	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TATTATTTGCAGTTGTTTTCCAA	0.483												
CYFIP1	23191	broad.mit.edu	37	15	22928513	22928513	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:22928512_22928512TA>T	uc001yus.3	+	5	491	c.387_splice	c.e5+2	p.Q129_splice	CYFIP1_uc001yut.3_Splice_Site_p.Q129_splice|CYFIP1_uc010aya.1_Splice_Site_p.Q157_splice	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	129					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACTTCCAGGTAAAATGGCAA	0.493												
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGATACTCACATTTTTTTACT	0.294												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
SELV	348303	broad.mit.edu	37	19	40009541	40009543	+	Splice_Site	DEL	AGG	AGG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40009540_40009542CAGG>C	uc021uum.1	+	4	989	c.889_splice	c.e4-1	p.E297_splice		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	297					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCTCCCAGGAGGAGGACA	0.601												
BRSK1	84446	broad.mit.edu	37	19	55815036	55815037	+	Splice_Site	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579												
ARFGEF2	10564	broad.mit.edu	37	20	47605030	47605030	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47605029_47605029TA>T	uc002xtx.4	+	18	2514	c.2362_splice	c.e18-1	p.V788_splice	ARFGEF2_uc010zyf.2_Splice_Site_p.V81_splice	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	788					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAATTACAGGTAAAAAATAAA	0.294												
RCC2	55920	broad.mit.edu	37	1	17739612	17739614	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17739612_17739614delCTG	uc001bal.2	-	9	1315_1317	c.1268_1270delCAG	c.(1267-1272)GCAGTG>GTG	p.A423del	RCC2_uc001bam.2_In_Frame_Del_p.A423del	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	423	RCC1 6.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGTCCTGCACTGCTTTTGGGTA	0.552												
RYR2	6262	broad.mit.edu	37	1	237540677	237540677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:237540677delA	uc001hyl.1	+	8	638	c.518delA	c.(517-519)GAAfs	p.E173fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	173	Cytoplasmic (By similarity).|MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGAAGGAGAAAAAGTACGA	0.433												
ANK3	288	broad.mit.edu	37	10	62149221	62149221	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:62149221delT	uc001jky.2	-	1	268	c.76delA	c.(76-78)AGGfs	p.R26fs	ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	26					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGGTGTTTCCTTTTTTTCTCA	0.398												
KDM5A	5927	broad.mit.edu	37	12	432249	432249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:432249delT	uc001qif.1	-	16	2637	c.2274delA	c.(2272-2274)AAAfs	p.K758fs	KDM5A_uc001qie.1_Frame_Shift_Del_p.K758fs|KDM5A_uc010sdn.1_Frame_Shift_Del_p.K717fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	758					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						AAATTTAACCTTTTTTGTGGT	0.353			T 	NUP98	AML							
DDX11	1663	broad.mit.edu	37	12	31254910	31254912	+	In_Frame_Del	DEL	GAA	GAA	-	rs7966307		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31254910_31254912delGAA	uc001rjt.1	+	21	2447_2449	c.2196_2198delGAA	c.(2194-2199)AGGAAG>AGG	p.K734del	DDX11_uc001rjr.1_In_Frame_Del_p.K734del|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_In_Frame_Del_p.K406del|DDX11_uc001rjv.1_In_Frame_Del_p.K734del|DDX11_uc001rjw.1_In_Frame_Del_p.K708del|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	734					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGCTGCCAGGAAGAAGGTGAGT	0.631										Multiple Myeloma(12;0.14)		
MLL2	8085	broad.mit.edu	37	12	49445149	49445149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49445149delG	uc001rta.3	-	10	2317	c.2317delC	c.(2317-2319)CAGfs	p.Q773fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	773	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCCTCAGGCTGGGGGGACAGG	0.677			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
NAV3	89795	broad.mit.edu	37	12	78512068	78512068	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:78512068delA	uc001syp.2	+	14	3204	c.3031delA	c.(3031-3033)AAAfs	p.K1011fs	NAV3_uc001syo.2_Frame_Shift_Del_p.K1011fs|NAV3_uc010sub.1_Frame_Shift_Del_p.K511fs|NAV3_uc009zsf.2_Frame_Shift_Del_p.K19fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1011						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AAGTGCACTCAAAACACCCGG	0.453										HNSCC(70;0.22)		
ATXN2	6311	broad.mit.edu	37	12	111907939	111907939	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111907939delC	uc001tsj.2	-	20	3451	c.3289delG	c.(3289-3291)GCTfs	p.A1097fs	ATXN2_uc001tsh.2_Frame_Shift_Del_p.A832fs|ATXN2_uc001tsi.2_Frame_Shift_Del_p.A808fs|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Frame_Shift_Del_p.A285fs|ATXN2_uc001tsl.1_Frame_Shift_Del_p.A116fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1097					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TGCTCATGAGCCCCGTACTGA	0.438												
C12orf51	283450	broad.mit.edu	37	12	112690349	112690349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:112690349delG	uc009zwc.2	-	16	2183	c.2165delC	c.(2164-2166)CCTfs	p.P722fs	C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						ATTTAAGGAAGGGGGGGAAAT	0.393												
PXN	5829	broad.mit.edu	37	12	120662036	120662036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:120662036delG	uc001txt.2	-	2	289	c.158delC	c.(157-159)CCGfs	p.P53fs	PXN_uc001txv.2_5'UTR|PXN_uc001txx.2_5'UTR|PXN_uc001txy.2_Frame_Shift_Del_p.P53fs|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	53	Pro-rich.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGCTGGACGGGGGTGGGGG	0.622												
GPR180	160897	broad.mit.edu	37	13	95254184	95254184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:95254184delG	uc001vly.2	+	1	81	c.3delG	c.(1-3)ATGfs	p.M1fs	GPR180_uc001vlz.2_Translation_Start_Site|GPR180_uc010afi.2_Translation_Start_Site	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	1						integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGACGGGCATGGGGGGGCTGC	0.771												
FARP1	10160	broad.mit.edu	37	13	99047712	99047712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:99047712delC	uc001vnj.2	+	13	1732	c.1396delC	c.(1396-1398)CCCfs	p.P466fs	FARP1_uc001vnh.2_Frame_Shift_Del_p.P466fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	466					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TAAACCTCAGCCCCCGCAGCC	0.607												
LRRC49	54839	broad.mit.edu	37	15	71272472	71272473	+	Frame_Shift_Ins	INS	-	-	A	rs34188459		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71272472_71272473insA	uc002asw.2	+	10	1201_1202	c.954_955insA	c.(952-957)GCCAAAfs	p.A318fs	LRRC49_uc002asu.2_Frame_Shift_Ins_p.A308fs|LRRC49_uc002asx.2_Frame_Shift_Ins_p.A274fs|LRRC49_uc010ukf.1_Frame_Shift_Ins_p.A323fs|LRRC49_uc002asy.2_Frame_Shift_Ins_p.A24fs|LRRC49_uc002asz.2_Frame_Shift_Ins_p.A290fs	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	318_319	Potential.					cytoplasm|microtubule				ovary(1)	1						CTGTTTTAGCCAAAAAAGAGGA	0.356												
RLTPR	146206	broad.mit.edu	37	16	67682131	67682131	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67682131delC	uc002etn.2	+	14	1368	c.1248delC	c.(1246-1248)CTCfs	p.L416fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.L416fs|RLTPR_uc010vjr.1_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	416	LRR 7.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCAACAGCCTCCCCCCGCAGC	0.701												
ZNF91	7644	broad.mit.edu	37	19	23544256	23544257	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:23544256_23544257delTA	uc002nre.2	-	4	1637_1638	c.1524_1525delTA	c.(1522-1527)CATAAGfs	p.H508fs	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Frame_Shift_Del_p.H476fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	508_509	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTATCTTATGTTTAGTAA	0.361												
FAM83E	54854	broad.mit.edu	37	19	49113957	49113957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49113957delC	uc002pjn.2	-	2	678	c.613delG	c.(613-615)GTGfs	p.V205fs		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	205										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CAGGGGTTCACCCCCAGCTGC	0.682												
FCGRT	2217	broad.mit.edu	37	19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50017380delG	uc002poe.2	+	3	801	c.315delG	c.(313-315)TTGfs	p.L105fs	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Frame_Shift_Del_p.L105fs|FCGRT_uc002poh.1_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	105	Extracellular (Potential).|Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TCAAAGCTTTGGGGGGAAAAG	0.577												
MZF1	7593	broad.mit.edu	37	19	59074613	59074613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:59074613delC	uc002qto.2	-	6	1592	c.1031delG	c.(1030-1032)GGCfs	p.G344fs	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Frame_Shift_Del_p.G344fs	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	344					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGGGGCGGCCCCGGCTCCG	0.692												
EPB41L5	57669	broad.mit.edu	37	2	120836150	120836150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:120836150delT	uc002tmg.2	+	10	922	c.796delT	c.(796-798)TTTfs	p.F266fs	EPB41L5_uc010flk.2_Frame_Shift_Del_p.F266fs|EPB41L5_uc010fll.2_Frame_Shift_Del_p.F266fs|EPB41L5_uc002tmh.3_Frame_Shift_Del_p.F266fs|EPB41L5_uc010flm.2_Frame_Shift_Del_p.F70fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	266	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AATTGGCTTATTTTTTTGGTA	0.279												
CCDC74B	91409	broad.mit.edu	37	2	130902531	130902531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:130902531delG	uc002tqm.1	-	1	101	c.39delC	c.(37-39)CCCfs	p.P13fs	CCDC74B_uc010yzw.1_5'UTR|CCDC74B_uc002tqn.1_Frame_Shift_Del_p.P13fs|CCDC74B_uc010yzx.1_Frame_Shift_Del_p.P13fs	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	13											0	Colorectal(110;0.1)					TCGGCGAGCTGGGGGGCCGCG	0.761												
FASTKD1	79675	broad.mit.edu	37	2	170428529	170428530	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:170428529_170428530insT	uc002uev.3	-	2	398_399	c.10_11insA	c.(10-12)ACAfs	p.T4fs	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						GAAAACAGGTGTTTTTTTCATT	0.366												
ABCA12	26154	broad.mit.edu	37	2	215890463	215890463	+	Frame_Shift_Del	DEL	T	T	-	rs145481860		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:215890463delT	uc002vew.2	-	11	1441	c.1221delA	c.(1219-1221)AAAfs	p.K407fs	ABCA12_uc002vev.2_Frame_Shift_Del_p.K89fs|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	407					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGAAAAGATTTTTTAAATC	0.328												
ESPNL	339768	broad.mit.edu	37	2	239016577	239016577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:239016577delC	uc002vxq.3	+	4	928	c.818delC	c.(817-819)ACCfs	p.T273fs	ESPNL_uc010fyw.2_Frame_Shift_Del_p.T13fs	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	273	ANK 9.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGGTGGGACCCCCCTCCAC	0.542												
PAX1	5075	broad.mit.edu	37	20	21690007	21690007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:21690007delC	uc002wsj.2	+	4	1261	c.1207delC	c.(1207-1209)CCCfs	p.P403fs	PAX1_uc010zsl.1_Frame_Shift_Del_p.P403fs|PAX1_uc010zsm.1_Frame_Shift_Del_p.P379fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	403					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						TCCTCTGGCGCCCCCCGGGGC	0.741												
MED15	51586	broad.mit.edu	37	22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:20936976delC	uc002zsp.2	+	10	1431	c.1351delC	c.(1351-1353)CCCfs	p.P451fs	MED15_uc002zsq.2_Frame_Shift_Del_p.P411fs|MED15_uc010gso.2_Frame_Shift_Del_p.P394fs|MED15_uc002zsr.2_Frame_Shift_Del_p.P385fs|MED15_uc011ahs.1_Frame_Shift_Del_p.P385fs|MED15_uc002zss.2_Frame_Shift_Del_p.P330fs|MED15_uc011ahu.1_Frame_Shift_Del_p.P161fs|MED15_uc002zst.2_Frame_Shift_Del_p.P67fs|MED15_uc002zsu.2_Frame_Shift_Del_p.P56fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	451	Pro-rich.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726												
CELSR1	9620	broad.mit.edu	37	22	46761168	46761168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:46761168delT	uc003bhw.1	-	32	8514	c.8514delA	c.(8512-8514)AAAfs	p.K2838fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2838	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGGTCCCATTTTTCCTCAG	0.657												
SCN10A	6336	broad.mit.edu	37	3	38781162	38781162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38781162delA	uc003ciq.2	-	14	2124	c.2124delT	c.(2122-2124)TTTfs	p.F708fs		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	708	Helical; Name=S2 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTCAGCAGTAAAAAATATGG	0.408												
CTSO	1519	broad.mit.edu	37	4	156850846	156850848	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:156850846_156850848delTCT	uc003ipg.2	-	6	733_735	c.684_686delAGA	c.(682-687)GAAGAT>GAT	p.E228del		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	228					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TGCCATTTCATCTTCTTGGTCAC	0.365												
DMXL1	1657	broad.mit.edu	37	5	118469635	118469635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:118469635delT	uc003ksd.2	+	12	2197	c.2016delT	c.(2014-2016)CCTfs	p.P672fs	DMXL1_uc010jcl.1_Frame_Shift_Del_p.P672fs|DMXL1_uc003ksc.1_Frame_Shift_Del_p.P672fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	672										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAGCAACCTTTTGATGCTC	0.383												
MDGA1	266727	broad.mit.edu	37	6	37615063	37615063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:37615063delG	uc003onu.1	-	10	3111	c.1932delC	c.(1930-1932)CCCfs	p.P644fs	MDGA1_uc003onv.1_5'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	644	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						GGGTGGGGTTGGGGGTGTCGA	0.562												
KIAA1009	22832	broad.mit.edu	37	6	84862351	84862351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84862351delT	uc010kbp.2	-	23	3639	c.3542delA	c.(3541-3543)AATfs	p.N1181fs	KIAA1009_uc003pkj.3_Frame_Shift_Del_p.N1105fs|KIAA1009_uc003pki.3_Frame_Shift_Del_p.N567fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1181	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTAGCTCATTTTTTAATCT	0.358												
DOCK5	80005	broad.mit.edu	37	8	25240190	25240190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:25240190delA	uc003xeg.2	+	40	4164	c.4027delA	c.(4027-4029)AAAfs	p.K1343fs	PPP2R2A_uc003xek.2_Frame_Shift_Del_p.K132fs|DOCK5_uc003xei.2_Frame_Shift_Del_p.K913fs|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1343	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTTTTCCAGAAAAAAAGGGC	0.408												
TRAF2	7186	broad.mit.edu	37	9	139820211	139820212	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139820211_139820212insT	uc010nbu.2	+	12	1537_1538	c.1364_1365insT	c.(1363-1365)TCTfs	p.S455fs	TRAF2_uc004cjv.2_Frame_Shift_Ins_p.S455fs|TRAF2_uc011mek.1_Frame_Shift_Ins_p.S444fs|TRAF2_uc010nbw.2_Frame_Shift_Ins_p.S430fs	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	455	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACTTCATCCTCTTTTCAGAGGC	0.579												
GABRD	2563	broad.mit.edu	37	1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGAGGCCAGGGGGGCATC	0.682												
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662												
ARID1A	8289	broad.mit.edu	37	1	27100176	27100177	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27100175_27100176A>AC	uc001bmv.1	+	15	4344_4345	c.3971_3972A>AC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcagc	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
GPN2	54707	broad.mit.edu	37	1	27216284	27216284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27216283_27216283AG>A	uc001bnd.1	-	0	587	c.305_305CT>T	c.(304-306)ctcfs	p.L102fs	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	102							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTGGCCGCGGAGGGGGTCGAG	0.662												
STX12	23673	broad.mit.edu	37	1	28128196	28128197	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:28128195_28128196CAG>C	uc001bou.4	+	3	420_421	c.295_296CAG>C	c.(295-297)cagfs	p.Q99fs		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	Homo sapiens syntaxin 12 (STX12), mRNA.	99					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGCGCCAGCAGAGACTTCAG	0.381												
YARS	8565	broad.mit.edu	37	1	33245834	33245834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:33245833_33245833TC>T	uc001bvy.1	-	10	1975	c.1187_1187GA>A	c.(1186-1188)gaafs	p.E396fs	YARS_uc001bvw.1_Frame_Shift_Del_p.E56fs|YARS_uc001bvx.1_Frame_Shift_Del_p.E47fs	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	396	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGGTTCAGCTTCCCCCACGTC	0.572												
MACF1	23499	broad.mit.edu	37	1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617												
INADL	10207	broad.mit.edu	37	1	62253580	62253581	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62253579_62253580A>AC	uc001dab.3	+	7	1117_1118	c.1003_1004A>AC	c.(1003-1005)accfs	p.T335fs	INADL_uc009waf.1_Frame_Shift_Ins_p.T335fs|INADL_uc001daa.2_Frame_Shift_Ins_p.T335fs|INADL_uc001dad.3_Frame_Shift_Ins_p.T32fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	335					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505												
TGFBR3	7049	broad.mit.edu	37	1	92224226	92224226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:92224225_92224225AG>A	uc001doh.3	-	3	844	c.329_329CT>T	c.(328-330)ctgfs	p.L110fs	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Frame_Shift_Del_p.L68fs|TGFBR3_uc001doi.3_Frame_Shift_Del_p.L110fs|TGFBR3_uc001doj.3_Frame_Shift_Del_p.L110fs	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	110					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATGCCACACCAGGGGGTGTGG	0.512												
WDR47	22911	broad.mit.edu	37	1	109547218	109547218	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:109547217_109547217AT>A	uc001dwl.3	-	5	1651	c.1275_1275AT>T	c.(1273-1275)aatfs	p.N425fs	WDR47_uc001dwi.3_Frame_Shift_Del_p.N418fs|WDR47_uc001dwj.3_Frame_Shift_Del_p.N417fs|WDR47_uc001dwk.2_Frame_Shift_Del_p.N389fs|WDR47_uc010ovf.2_Frame_Shift_Del_p.N344fs	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	417	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATATTACCTCATTTTTTTCTT	0.353												
NBPF7	343505	broad.mit.edu	37	1	120377452	120377452	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:120377451_120377451GT>G	uc010oxk.2	-	7	1824	c.1203_1203AC>C	c.(1201-1203)aacfs	p.N401fs		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	401						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TGCTGTTGTAGTTTTTTTCAT	0.388												
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559												
VANGL2	57216	broad.mit.edu	37	1	160388802	160388802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160388801_160388801TG>T	uc001fwb.2	+	4	501	c.202_202TG>T	c.(202-204)tggfs	p.W68fs	VANGL2_uc001fwc.2_Frame_Shift_Del_p.W68fs	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	68					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGACAACTGGGGGGAAAC	0.552												
SLC19A2	10560	broad.mit.edu	37	1	169446809	169446809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:169446808_169446808TA>T	uc001gge.4	-	1	596	c.392_392TA>A	c.(391-393)tatfs	p.Y131fs	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	131					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGCGATGCCATAAAAAAATTC	0.453												
CACNA1E	777	broad.mit.edu	37	1	181727237	181727239	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:181727236_181727238CTGA>C	uc009wxt.3	+	30	4678_4680	c.4483_4485CTGA>C	c.(4483-4485)ctg>C	p.L1495del	CACNA1E_uc001gow.3_In_Frame_Del_p.L1495del|CACNA1E_uc009wxs.3_In_Frame_Del_p.L1476del|CACNA1E_uc001gox.1_In_Frame_Del_p.L721del	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1495					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TACTGTTGTGCTGATGATGAAGG	0.557												
ASPM	259266	broad.mit.edu	37	1	197072396	197072396	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:197072395_197072395CT>C	uc001gtu.3	-	17	6243	c.5986_5986AG>G	c.(5986-5988)gctfs	p.A1996fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1996	IQ 13.				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						AGAAGAGCAGCTTTTTTCATG	0.338												
NEK7	140609	broad.mit.edu	37	1	198222298	198222299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:198222297_198222298T>TA	uc001gun.4	+	2	512_513	c.185_186T>TA	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Ins_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTGC	0.317												
LMOD1	25802	broad.mit.edu	37	1	201869808	201869809	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201869807_201869808C>CT	uc021phl.1	-	1	581_582	c.333_334G>AG	c.(331-336)aaagccfs	p.K111fs	LMOD1_uc021phm.1_Frame_Shift_Ins_p.K111fs|LMOD1_uc010ppu.2_Intron	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	111					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGCCCAGGGCTTTTTTGCTGG	0.480												
KDM5B	10765	broad.mit.edu	37	1	202704625	202704625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:202704624_202704624CT>C	uc009xag.3	-	22	3580	c.3464_3464AG>G	c.(3463-3465)agcfs	p.S1155fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.S1119fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.S961fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1119					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAATTTGGTGCTTTTTTTCTT	0.423												
IKBKE	9641	broad.mit.edu	37	1	206647728	206647728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:206647727_206647727GC>G	uc001hdz.2	+	3	719	c.141_141GC>G	c.(139-141)cggfs	p.R47fs	IKBKE_uc009xbu.2_Frame_Shift_Del_p.R47fs|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Frame_Shift_Del_p.R47fs	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	47	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCTACCTGCGGCCCCGCGAGG	0.577												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
KCNH1	3756	broad.mit.edu	37	1	210857113	210857113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:210857112_210857112GC>G	uc001hib.2	-	10	2651	c.2481_2481GC>C	c.(2479-2481)ggcfs	p.G827fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.G800fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	827					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCGCCCCCGCCCCCCTTGG	0.647												
PTPN14	5784	broad.mit.edu	37	1	214556665	214556666	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:214556664_214556665ATC>A	uc001hkk.2	-	12	3186_3187	c.2533_2534GAT>T	c.(2533-2535)atgfs	p.M845fs	PTPN14_uc021piy.1_Frame_Shift_Del_p.M609fs|PTPN14_uc010pty.2_Frame_Shift_Del_p.M746fs	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	845					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCTGATCATCATCTCTCTCTCT	0.515												
TP53BP2	7159	broad.mit.edu	37	1	223971921	223971923	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:223971920_223971922CCTT>C	uc001hod.3	-	17	3682_3684	c.2871_2873AAGG>G	c.(2869-2874)gaagga>gaGa	p.G958del	TP53BP2_uc010pvb.2_In_Frame_Del_p.G1087del|TP53BP2_uc010puz.2_In_Frame_Del_p.G320del|TP53BP2_uc010pva.2_In_Frame_Del_p.G726del	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	1081	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CATGCAGTCTCCTTCTTTCATGG	0.443												
ERO1LB	56605	broad.mit.edu	37	1	236393553	236393554	+	Splice_Site	DEL	GA	GA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:236393552_236393553TGA>T	uc001hxt.3	-	10	942	c.686_splice	c.e10-1	p.G229_splice		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	229					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATGATTCTCCTGAGAGAGAGAG	0.302												
SDCCAG8	10806	broad.mit.edu	37	1	243456462	243456462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:243456461_243456461AT>A	uc001hzw.3	+	5	784	c.615_615AT>A	c.(613-615)ccafs	p.P205fs	SDCCAG8_uc010pyk.2_Frame_Shift_Del_p.P60fs|SDCCAG8_uc010pyl.2_Intron|SDCCAG8_uc001hzx.3_Intron|SDCCAG8_uc001hzy.1_Frame_Shift_Del_p.P21fs	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	205					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CCAAAAGACCATTTTCCCATG	0.413												
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATG	0.368												
PUM2	23369	broad.mit.edu	37	2	20453761	20453761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:20453760_20453760CT>C	uc002rds.1	-	18	2904	c.2886_2886AG>G	c.(2884-2886)aagfs	p.K962fs	PUM2_uc002rdq.1_Frame_Shift_Del_p.K341fs|PUM2_uc002rdt.1_Frame_Shift_Del_p.K962fs|PUM2_uc002rdr.2_Frame_Shift_Del_p.K822fs|PUM2_uc010yjy.1_Frame_Shift_Del_p.K883fs|PUM2_uc002rdu.1_Frame_Shift_Del_p.K962fs|PUM2_uc010yjz.1_Frame_Shift_Del_p.K901fs	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	964	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTAACACACTTTTCTACTA	0.378												
CAD	790	broad.mit.edu	37	2	27457496	27457496	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27457495_27457495TG>T	uc002rji.3	+	22	3890	c.3728_3728TG>T	c.(3727-3729)atgfs	p.M1243fs	CAD_uc010eyw.3_Frame_Shift_Del_p.M1180fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1243	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGGGTCATCATGGGGGAAGAA	0.512												
SLC30A3	7781	broad.mit.edu	37	2	27478188	27478188	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27478187_27478187TG>T	uc002rjk.3	-	7	1346	c.1160_1160CA>A	c.(1159-1161)caafs	p.Q387fs	SLC30A3_uc002rjj.3_Frame_Shift_Del_p.K233fs|SLC30A3_uc010ylh.2_Frame_Shift_Del_p.Q382fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	387					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTC	0.662												
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C	rs63749866		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
FANCL	55120	broad.mit.edu	37	2	58392978	58392978	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:58392977_58392977CA>C	uc002rzx.4	-	7	655	c.588_588TG>G	c.(586-588)ttgfs	p.L196fs	FANCL_uc002rzw.4_Frame_Shift_Del_p.L191fs|FANCL_uc010fce.3_Frame_Shift_Del_p.L191fs|FANCL_uc010fcf.1_Frame_Shift_Del_p.L132fs	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	191					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CTATTGCTGCCAAAAACTGAC	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
BCL11A	53335	broad.mit.edu	37	2	60688200	60688201	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:60688199_60688200G>GC	uc002sae.1	-	3	2075_2076	c.1847_1848C>GC	c.(1846-1848)ggcfs	p.G616fs	BCL11A_uc002sab.3_Frame_Shift_Ins_p.G616fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Frame_Shift_Ins_p.G285fs|BCL11A_uc010ypj.2_Frame_Shift_Ins_p.G582fs|BCL11A_uc002sad.1_Frame_Shift_Ins_p.G464fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.G582fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	616					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTTGGACAGGCCCCCCGAGGC	0.668			T	IGH@	B-CLL							
PNO1	56902	broad.mit.edu	37	2	68385130	68385131	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:68385129_68385130C>CA	uc002seh.3	+	0	125_126	c.63_64C>CA	c.(61-66)cgcaagfs	p.R21fs	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	Homo sapiens partner of NOB1 homolog (S. cerevisiae) (PNO1), mRNA.	21						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGGTCACCCGCAAGGGTGGCCG	0.644												
SLC9A2	6549	broad.mit.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAAC	0.527												
PSD4	23550	broad.mit.edu	37	2	113942944	113942945	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:113942943_113942944CCT>C	uc002tjc.3	+	3	1358_1359	c.1175_1176CCT>C	c.(1174-1176)gccfs	p.A392fs	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Frame_Shift_Del_p.A391fs|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	392					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCAACAGGCCTCTCTCAGCC	0.594												
UGGT1	56886	broad.mit.edu	37	2	128867247	128867248	+	Frame_Shift_Ins	INS	-	-	T	rs138042550		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:128867246_128867247G>GT	uc002tps.3	+	4	625_626	c.447_448G>GT	c.(445-450)tcgtttfs	p.S149fs	UGGT1_uc010fme.1_Frame_Shift_Ins_p.S24fs|UGGT1_uc002tpr.3_Frame_Shift_Ins_p.S125fs	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTAATTCGTTTTTTTCAGT	0.371												
LRP1B	53353	broad.mit.edu	37	2	141528516	141528516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:141528515_141528515TC>T	uc002tvj.1	-	33	6533	c.5561_5561GA>A	c.(5560-5562)gaafs	p.E1854fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1854	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTGTAGTTTCAGATGTTGG	0.363										TSP Lung(27;0.18)		
SCN3A	6328	broad.mit.edu	37	2	165987930	165987931	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:165987929_165987930T>TA	uc002ucx.3	-	16	2884	c.2392_splice	c.e16-1	p.V798_splice	SCN3A_uc002ucy.3_Splice_Site_p.V749_splice|SCN3A_uc002ucz.3_Splice_Site_p.V749_splice|SCN3A_uc002uda.1_Splice_Site_p.V618_splice|SCN3A_uc002udb.1_Splice_Site_p.V618_splice	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAAAGACCTAAAAAATAGAG	0.327												
CSRNP3	80034	broad.mit.edu	37	2	166514384	166514385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:166514383_166514384A>AG	uc002udf.3	+	4	637_638	c.261_262A>AG	c.(259-264)caagggfs	p.Q87fs	CSRNP3_uc002udg.3_Frame_Shift_Ins_p.Q87fs	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	87					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGCCCAGTCAAGGGGGAAGCAC	0.540												
FASTKD1	79675	broad.mit.edu	37	2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAAACAGGTGTTTTTTTCATT	0.366												
TTN	7273	broad.mit.edu	37	2	179647781	179647781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179647780_179647780AT>A	uc021vsy.1	-	17	3078	c.2853_2853AT>T	c.(2851-2853)aatfs	p.N951fs	TTN_uc021vsz.1_Frame_Shift_Del_p.N905fs|TTN_uc021vta.1_Frame_Shift_Del_p.N905fs|TTN_uc021vtb.1_Frame_Shift_Del_p.N905fs|TTN_uc002unb.2_Frame_Shift_Del_p.N951fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	951	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGTCACATTTTTTAAGC	0.388												
SLC39A10	57181	broad.mit.edu	37	2	196544942	196544943	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:196544941_196544942G>GA	uc002utg.4	+	1	389_390	c.175_176G>GA	c.(175-177)gaafs	p.E59fs	SLC39A10_uc002uth.4_Frame_Shift_Ins_p.E59fs|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	59					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCTGAAAATGAAAAAAAATAC	0.381												
BMPR2	659	broad.mit.edu	37	2	203383617	203383617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:203383616_203383616GT>G	uc002uzf.4	+	5	1841	c.693_693GT>G	c.(691-693)gtgfs	p.V231fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.V231fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	231	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CTGTAAAAGTGTTTTCCTTTG	0.413												
NDUFS1	4719	broad.mit.edu	37	2	207006766	207006768	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:207006765_207006767TAAG>T	uc010ziq.2	-	11	1263_1265	c.1202_1204CTTA>A	c.(1201-1206)cttaat>cAat	p.401_402LN>Q	NDUFS1_uc002vbe.3_In_Frame_Del_p.387_388LN>Q|NDUFS1_uc010zir.2_In_Frame_Del_p.351_352LN>Q|NDUFS1_uc010zis.2_In_Frame_Del_p.330_331LN>Q|NDUFS1_uc010zit.2_In_Frame_Del_p.276_277LN>Q|NDUFS1_uc010ziu.2_In_Frame_Del_p.271_272LN>Q	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	387					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATTGTAGTATTAAGAAGATAATT	0.345												
SP100	6672	broad.mit.edu	37	2	231379990	231379990	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:231379989_231379989GA>G	uc002vqt.3	+	24	2415	c.2274_2274GA>G	c.(2272-2274)gagfs	p.E758fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGA	0.418												
B3GNT7	93010	broad.mit.edu	37	2	232262822	232262823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:232262821_232262822A>AG	uc002vrs.3	+	1	571_572	c.391_392A>AG	c.(391-393)aggfs	p.R131fs		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	131					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGAGAAGTGCAGGGGCGATGTC	0.663												
PBRM1	55193	broad.mit.edu	37	3	52643771	52643771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52643770_52643770AT>A	uc003des.2	-	15	2138	c.2126_2126AT>T	c.(2125-2127)attfs	p.I709fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.I709fs|PBRM1_uc003der.2_Frame_Shift_Del_p.I677fs|PBRM1_uc003det.2_Frame_Shift_Del_p.I724fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.I724fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.I709fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.I709fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.I709fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.I709fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.I622fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.I55fs|PBRM1_uc003dfc.3_Frame_Shift_Del_p.I76fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	709	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.I709T(3)|p.I677T(1)|p.K708fs*14(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGACTTCGAATTTTTTCCAT	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
FAM116A	201627	broad.mit.edu	37	3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:57619022_57619022CA>C	uc003dja.3	-	14	1394	c.1323_1323TG>G	c.(1321-1323)ttgfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	441								p.L441fs*3(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTGTCAGTTCCAAAAAATAGC	0.333												
FLNB	2317	broad.mit.edu	37	3	58067448	58067449	+	Frame_Shift_Ins	INS	-	-	G	rs140037128		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:58067447_58067448C>CG	uc003djj.2	+	3	896_897	c.731_732C>CG	c.(730-732)ccgfs	p.P244fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.P244fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.P244fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.P244fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.P75fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.P75fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	244					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGCTCAAGCCGGGGGCTCCTC	0.530												
TM4SF4	7104	broad.mit.edu	37	3	149192694	149192694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:149192693_149192693TG>T	uc003exd.2	+	0	326	c.29_29TG>T	c.(28-30)ctgfs	p.L10fs		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	10						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACC	0.532												
IGSF10	285313	broad.mit.edu	37	3	151165427	151165427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:151165426_151165426TG>T	uc011bod.2	-	3	2343	c.2343_2343CA>A	c.(2341-2343)ccafs	p.P781fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	781					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGTGACCACTGGGGGTGGGC	0.498												
ZBBX	79740	broad.mit.edu	37	3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGAACAATAATCTTCTCCACAT	0.310												
B3GNT5	84002	broad.mit.edu	37	3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353												
ZFYVE28	57732	broad.mit.edu	37	4	2343294	2343294	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:2343293_2343293TG>T	uc003gex.2	-	2	550	c.230_230CA>A	c.(229-231)cagfs	p.Q77fs	ZFYVE28_uc011bvk.2_Frame_Shift_Del_p.Q7fs|ZFYVE28_uc011bvl.2_Frame_Shift_Del_p.Q77fs|ZFYVE28_uc003gey.4_Frame_Shift_Del_p.Q7fs|ZFYVE28_uc003gez.3_Frame_Shift_Del_p.Q30fs|ZFYVE28_uc021xkq.1_Frame_Shift_Del_p.Q77fs|ZFYVE28_uc003gew.2_5'Flank	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	77					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCGCGGTCCTGGGGGATGCA	0.587												
TMEM33	55161	broad.mit.edu	37	4	41956157	41956159	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:41956156_41956158GAGA>G	uc003gwi.2	+	6	1049_1051	c.684_686GAGA>G	c.(682-687)gtgaga>gtGa	p.R230del	TMEM33_uc010ifw.2_Non-coding_Transcript	NM_018126	NP_060596	P57088	TMM33_HUMAN	Homo sapiens transmembrane protein 33 (TMEM33), mRNA.	230						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CACTGTTTGTGAGAAGACTTTGT	0.350												
ATP8A1	10396	broad.mit.edu	37	4	42576727	42576727	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:42576726_42576726TA>T	uc003gwr.2	-	14	1439	c.1207_splice	c.e14-1	p.V403_splice	ATP8A1_uc003gws.2_Splice_Site_p.V403_splice|ATP8A1_uc011byz.1_Splice_Site_p.V403_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	403					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTATTTAACCTAAAAAAGTTT	0.338												
FGF5	2250	broad.mit.edu	37	4	81188116	81188119	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:81188115_81188118GCAGA>G	uc003hmd.3	+	0	374_377	c.137_140GCAGA>G	c.(136-141)agcagafs	p.S46fs	FGF5_uc003hme.3_Frame_Shift_Del_p.S46fs	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	46					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGCTCCAGCAGCAGACAGAGCAGC	0.627												
ANK2	287	broad.mit.edu	37	4	114280135	114280135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:114280134_114280134AG>A	uc003ibe.4	+	37	10460	c.10360_10360AG>A	c.(10360-10362)aggfs	p.R3454fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R3469fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3454S(1)|p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCAC	0.458												
ANKRD50	57182	broad.mit.edu	37	4	125590728	125590728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:125590727_125590727TG>T	uc010inw.3	-	3	4743	c.3705_3705CA>A	c.(3703-3705)ccafs	p.P1235fs	ANKRD50_uc011cgo.2_Frame_Shift_Del_p.P1056fs	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1235	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTGTGGAAGATGGGGAAACAA	0.398												
SCLT1	132320	broad.mit.edu	37	4	129864163	129864164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:129864162_129864163C>CT	uc003igp.2	-	16	2126_2127	c.1620_1621G>AG	c.(1618-1623)aaagccfs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356												
RAB33B	83452	broad.mit.edu	37	4	140394218	140394218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:140394217_140394217GC>G	uc003ihv.3	+	1	1016	c.627_627GC>G	c.(625-627)cagfs	p.Q209fs		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.	209					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					TGCTTAGTCAGCCCCCTGATA	0.378												
FASTKD3	79072	broad.mit.edu	37	5	7867527	7867527	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:7867526_7867526CT>C	uc003jeb.3	-	1	843	c.671_671AG>G	c.(670-672)agtfs	p.S224fs	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	224					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTAATCAGACTTTCCCCAAG	0.423												
SLC1A3	6507	broad.mit.edu	37	5	36679799	36679799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:36679798_36679798TG>T	uc003jkj.4	+	6	1406	c.930_930TG>T	c.(928-930)attfs	p.I310fs	SLC1A3_uc011cox.2_Frame_Shift_Del_p.I203fs|SLC1A3_uc010iuy.3_Frame_Shift_Del_p.I310fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGC	0.522												
C5orf42	65250	broad.mit.edu	37	5	37196015	37196015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:37196014_37196014TA>T	uc011cpa.1	-	20	3988	c.3757_3757TA>A	c.(3757-3759)agafs	p.R1253fs	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.R328fs|C5orf42_uc011cpb.1_Frame_Shift_Del_p.R134fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1253								p.P1253S(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTCCAGGTCTAAAAAATGCG	0.378												
OSMR	9180	broad.mit.edu	37	5	38923329	38923329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:38923328_38923328GA>G	uc003jln.2	+	12	2244	c.1842_1842GA>G	c.(1840-1842)gagfs	p.E614fs	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	614	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTTATTAGAGAAAAAAACAG	0.368												
PAPD4	167153	broad.mit.edu	37	5	78936937	78936937	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:78936936_78936936CT>C	uc010jae.1	+	6	1007	c.589_589CT>C	c.(589-591)cttfs	p.L197fs	PAPD4_uc003kgb.2_Frame_Shift_Del_p.L197fs|PAPD4_uc010jaf.1_Frame_Shift_Del_p.L197fs|PAPD4_uc003kga.2_Frame_Shift_Del_p.L197fs|PAPD4_uc003kfz.2_Frame_Shift_Del_p.L197fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	197					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGAAAGCAGACTTTTTTTGGT	0.323												
CMYA5	202333	broad.mit.edu	37	5	79030062	79030062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:79030061_79030061GA>G	uc003kgc.3	+	1	5545	c.5473_5473GA>G	c.(5473-5475)gaafs	p.E1825fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1825						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAAGACAGAAAAAGCACT	0.383												
GLRX	2745	broad.mit.edu	37	5	95152333	95152334	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:95152332_95152333T>TA	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCACA	0.411												
HSD17B4	3295	broad.mit.edu	37	5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:118810103_118810105GGAA>G	uc003ksj.3	+	3	361_363	c.228_230GGAA>G	c.(226-231)gtggaa>gtGa	p.E78del	HSD17B4_uc011cwh.2_In_Frame_Del_p.E60del|HSD17B4_uc011cwg.2_In_Frame_Del_p.E54del|HSD17B4_uc011cwi.2_In_Frame_Del_p.E103del|HSD17B4_uc003ksk.4_5'UTR|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	78	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.E77E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CAGATTCAGTGGAAGAAGGAGAG	0.419												
FSTL4	23105	broad.mit.edu	37	5	132534947	132534947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:132534946_132534946AC>A	uc003kyn.1	-	15	2588	c.2370_2370GT>T	c.(2368-2370)ggtfs	p.G790fs	FSTL4_uc003kym.1_Frame_Shift_Del_p.G439fs	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	790						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTGGGTACCCCCCCAGG	0.602												
PCDHB1	29930	broad.mit.edu	37	5	140431111	140431111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140431110_140431110AT>A	uc003lik.1	+	0	132	c.55_55AT>A	c.(55-57)attfs	p.I19fs		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	19					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTCTTCTCATTTTTCTGTG	0.517												
KIF4B	285643	broad.mit.edu	37	5	154395428	154395430	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:154395427_154395429AAAG>A	uc010jih.1	+	0	2168_2170	c.2008_2010AAAG>A	c.(2008-2010)aaa>A	p.K670del		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	670	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAAAAAGACAAAGAAGTAATAC	0.394												
CCDC99	54908	broad.mit.edu	37	5	169028407	169028410	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:169028406_169028409CAGAA>C	uc003mae.4	+	10	1726_1729	c.1447_1450CAGAA>C	c.(1447-1452)cagaaafs	p.Q483fs	CCDC99_uc010jjj.3_Frame_Shift_Del_p.Q412fs|CCDC99_uc011deq.2_Frame_Shift_Del_p.Q300fs|CCDC99_uc010jjk.3_Frame_Shift_Del_p.Q209fs	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	483					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)			ATTACCGCCTCAGAAAGAGGAGAC	0.446												
RPP40	10799	broad.mit.edu	37	6	4995424	4995424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:4995423_4995423AT>A	uc003mwl.3	-	7	1016	c.981_981AT>T	c.(979-981)aatfs	p.N327fs	RPP40_uc003mwm.3_Frame_Shift_Del_p.N304fs	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	327					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				AACCATGTTCATTTTTTTCCC	0.393												
PGBD1	84547	broad.mit.edu	37	6	28268660	28268660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:28268659_28268659GA>G	uc003nky.3	+	6	1448	c.1028_1028GA>G	c.(1027-1029)agafs	p.R343fs	PGBD1_uc003nkz.3_Frame_Shift_Del_p.R343fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	343					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CGAAAAGGGAGAAAAAAAGAC	0.493												
SCUBE3	222663	broad.mit.edu	37	6	35205699	35205699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:35205698_35205698CG>C	uc003okf.1	+	6	738	c.732_732CG>C	c.(730-732)aacfs	p.N244fs	SCUBE3_uc003okg.1_Frame_Shift_Del_p.N243fs|SCUBE3_uc003okh.1_Frame_Shift_Del_p.N131fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	244	EGF-like 6.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGTCAACAACGGGGGCTGTG	0.557												
C6orf130	221443	broad.mit.edu	37	6	41037821	41037822	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:41037820_41037821A>AAT	uc003opm.3	-	3	409_410	c.237_238T>ATT	c.(235-240)tattacfs	p.Y79fs	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.3_Frame_Shift_Ins_p.Y79fs|C6orf130_uc003opn.3_Frame_Shift_Ins_p.Y79fs|C6orf130_uc010jxh.1_Frame_Shift_Ins_p.Y79fs|NFYA_uc003opo.3_5'Flank|NFYA_uc003opp.3_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	Homo sapiens chromosome 6 open reading frame 130 (C6orf130), mRNA.	79	Macro.									endometrium(1)|lung(5)	6	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTACCAAGTAATATATATATC	0.351												
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTG	0.562												
COL12A1	1303	broad.mit.edu	37	6	75866088	75866088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:75866087_75866087TG>T	uc021zbv.1	-	13	3171	c.3136_3136CA>A	c.(3136-3138)acafs	p.T1046fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.T1046fs|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1046	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.T1046fs*7(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAAGTGACTGTGGGGGGCACC	0.493												
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87725846_87725846TC>T	uc003pli.3	+	1	1497	c.794_794TC>T	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTC	0.507												
ZNF292	23036	broad.mit.edu	37	6	87966812	87966812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87966811_87966811AT>A	uc003plm.4	+	7	3505	c.3464_3464AT>A	c.(3463-3465)tatfs	p.Y1155fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1154S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGTTTGTTTATTTTTTGCCA	0.408												
GJA1	2697	broad.mit.edu	37	6	121768438	121768438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:121768437_121768437AG>A	uc003pyr.3	+	1	694	c.444_444AG>A	c.(442-444)cgafs	p.R148fs	GJA1_uc011ebo.1_Frame_Shift_Del_p.R49fs|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Frame_Shift_Del_p.R148fs	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	148			R -> Q (in dbSNP:rs2228960).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.R148Q(1)|p.R148*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGAAAATGCGAGGGGGGTTGC	0.448												
RNF217	154214	broad.mit.edu	37	6	125397902	125397902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:125397901_125397901AT>A	uc003pzr.3	+	3	1209	c.675_675AT>A	c.(673-675)cgafs	p.R225fs	RNF217_uc003pzs.3_Frame_Shift_Del_p.R168fs|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GCCAGCTCCGATTTTTTGGAG	0.448												
SGK1	6446	broad.mit.edu	37	6	134491976	134491976	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:134491975_134491975TA>T	uc003qen.4	-	10	1206	c.1117_1117TA>A	c.(1117-1119)aacfs	p.N373fs	SGK1_uc003qeo.4_Frame_Shift_Del_p.N468fs|SGK1_uc011ect.2_Frame_Shift_Del_p.N363fs|SGK1_uc011ecu.2_Frame_Shift_Del_p.N329fs|SGK1_uc011ecv.2_Frame_Shift_Del_p.N387fs|SGK1_uc011ecw.2_Frame_Shift_Del_p.N401fs	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	373	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACATTTGGGTTAAAAGGGGGA	0.378												
C6orf72	116254	broad.mit.edu	37	6	149901801	149901801	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:149901800_149901800GT>G	uc003qmq.1	+	5	681	c.658_658GT>G	c.(658-660)gttfs	p.V220fs	C6orf72_uc010kie.1_Frame_Shift_Del_p.V100fs	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	220						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		AGATGAAGATGTTTTACCTGG	0.408												
EZR	7430	broad.mit.edu	37	6	159206452	159206452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:159206451_159206451AG>A	uc003qrt.4	-	3	572	c.357_357CT>T	c.(355-357)cctfs	p.P119fs	EZR_uc011efs.2_Frame_Shift_Del_p.P87fs|EZR_uc003qru.4_Frame_Shift_Del_p.P119fs	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	119	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGCAGTCTCAGGGGGGCAGT	0.537			T	ROS1	NSCLC							
DLL1	28514	broad.mit.edu	37	6	170594674	170594675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:170594673_170594674G>GC	uc003qxm.3	-	5	1315_1316	c.845_846C>GC	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCAGAAAAGGCCCCCCCAGCC	0.599												
OSBPL3	26031	broad.mit.edu	37	7	24856292	24856292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:24856291_24856291GT>G	uc003sxf.3	-	17	2370	c.1965_1965AC>C	c.(1963-1965)aacfs	p.N655fs	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Frame_Shift_Del_p.N619fs|OSBPL3_uc003sxh.3_Frame_Shift_Del_p.N624fs|OSBPL3_uc003sxi.3_Frame_Shift_Del_p.N588fs	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	655					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCCAGAATTTGTTTTTCCATC	0.378												
HOXA3	3200	broad.mit.edu	37	7	27147982	27147982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:27147981_27147981CG>C	uc011jzl.2	-	2	1085	c.885_885CG>G	c.(883-885)ccgfs	p.P295fs	HOXA3_uc003syk.3_Frame_Shift_Del_p.P295fs	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	295					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGAGAAGGGCGGGGGCGACT	0.697												
ELMO1	9844	broad.mit.edu	37	7	37311468	37311468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:37311467_37311467AT>A	uc022abv.1	-	4	923	c.213_213AT>T	c.(211-213)aatfs	p.N71fs	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Frame_Shift_Del_p.N71fs|ELMO1_uc010kxg.2_Frame_Shift_Del_p.N71fs	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	71					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGATAGTGCCATTTTTTATCT	0.368												
INHBA	3624	broad.mit.edu	37	7	41730049	41730049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:41730048_41730048CT>C	uc003thq.3	-	1	716	c.481_481AG>G	c.(481-483)gtcfs	p.V161fs	INHBA_uc003thr.3_Frame_Shift_Del_p.V161fs	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	161					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V161V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCTTGGGGACTTTTAGGAAG	0.577										TSP Lung(11;0.080)		
HECW1	23072	broad.mit.edu	37	7	43591891	43591892	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:43591890_43591891G>GA	uc003tid.1	+	27	5070_5071	c.4465_4466G>GA	c.(4465-4467)gaafs	p.E1489fs	HECW1_uc011kbi.1_Frame_Shift_Ins_p.E1455fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1489	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCACCGCGGAAATCGACCTA	0.525												
ZMIZ2	83637	broad.mit.edu	37	7	44806211	44806211	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:44806210_44806210TG>T	uc003tlr.3	+	17	2726	c.2603_2603TG>T	c.(2602-2604)atgfs	p.M868fs	ZMIZ2_uc003tlq.3_Frame_Shift_Del_p.M810fs|ZMIZ2_uc003tls.3_Frame_Shift_Del_p.M842fs|ZMIZ2_uc003tlt.3_Frame_Shift_Del_p.M491fs|ZMIZ2_uc010kyj.3_Frame_Shift_Del_p.M390fs|ZMIZ2_uc003tlu.3_Frame_Shift_Del_p.M149fs|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	868	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACAGGCGTGATGGGGCCCCCC	0.667												
DDC	1644	broad.mit.edu	37	7	50595863	50595864	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:50595862_50595863GTC>G	uc003tpg.4	-	5	887_888	c.686_687GAC>C	c.(685-687)gacfs	p.D229fs	DDC_uc022ade.1_Frame_Shift_Del_p.D151fs|DDC_uc003tpf.4_Frame_Shift_Del_p.D229fs|DDC_uc022adb.1_Frame_Shift_Del_p.D191fs|DDC_uc022adc.1_Intron|DDC_uc022add.1_Intron|DDC_uc022adf.1_Frame_Shift_Del_p.D229fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	229					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAGCCGCTTTGTCTCTCTCCAG	0.485												
UPK3B	80761	broad.mit.edu	37	7	76139983	76139983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:76139982_76139982TG>T	uc003ufq.3	+	0	238	c.13_13TG>T	c.(13-15)tggfs	p.W5fs	UPK3B_uc003ufo.3_Frame_Shift_Del_p.W5fs|UPK3B_uc010ldk.1_Frame_Shift_Del_p.W5fs	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	5					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGGGCTACCCTGGGGGCAGCC	0.677												
PTPN12	5782	broad.mit.edu	37	7	77256686	77256687	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:77256685_77256686G>GA	uc003ugh.2	+	12	1780_1781	c.1689_1690G>GA	c.(1687-1692)aggaaafs	p.R563fs	PTPN12_uc011kgp.1_Frame_Shift_Ins_p.R444fs|PTPN12_uc011kgq.1_Frame_Shift_Ins_p.R433fs|PTPN12_uc010lds.2_Frame_Shift_Ins_p.R295fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	563						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCAAACTAGGAAAACTGTGAG	0.401												
TRRAP	8295	broad.mit.edu	37	7	98547123	98547123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:98547122_98547122CG>C	uc003upp.3	+	34	5059	c.4850_4850CG>C	c.(4849-4851)ccgfs	p.P1617fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.P1599fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.P1316fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1617					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCTGCTGCCGGGGGGTGCC	0.597												
SRRT	51593	broad.mit.edu	37	7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609												
PLOD3	8985	broad.mit.edu	37	7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G	rs138002558	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639												
SLC26A5	375611	broad.mit.edu	37	7	103061308	103061308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:103061307_103061307AT>A	uc003vbz.3	-	3	432	c.170_170AT>T	c.(169-171)atafs	p.I57fs	SLC26A5_uc003vbt.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbu.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbv.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Frame_Shift_Del_p.I57fs	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	57					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I57fs*1(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATATTTCTTATTTTTTTAGG	0.353												
GRM8	2918	broad.mit.edu	37	7	126173396	126173396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:126173395_126173395TC>T	uc003vlr.2	-	7	2352	c.2041_2041GA>A	c.(2041-2043)aagfs	p.K681fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.K681fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	681					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.K681K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACAGATTTCTTCCCCTGCTCA	0.507										HNSCC(24;0.065)		
SND1	27044	broad.mit.edu	37	7	127326798	127326799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127326797_127326798C>CA	uc003vmi.3	+	1	435_436	c.209_210C>CA	c.(208-210)gcafs	p.A70fs		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	70	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAACCTGATGCAAAGGATACCC	0.564												
SND1	27044	broad.mit.edu	37	7	127447606	127447607	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127447605_127447606G>GA	uc003vmi.3	+	10	1446_1447	c.1220_1221G>GA	c.(1219-1221)cgafs	p.R407fs	SND1_uc010lle.3_Frame_Shift_Ins_p.R60fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	407	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAATTTCTTCGAAAAAAGCTTA	0.381												
RP1L1	94137	broad.mit.edu	37	8	10480382	10480382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:10480381_10480381TG>T	uc003wtc.3	-	1	560	c.331_331CA>A	c.(331-333)aagfs	p.K111fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	111					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGGGTCTTGGGGGGCTTC	0.652												
MCM4	4173	broad.mit.edu	37	8	48883979	48883980	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:48883978_48883979T>TA	uc003xqk.2	+	12	2704_2705	c.1878_1879T>TA	c.(1876-1881)cctaaafs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Ins_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Ins_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTGGAATCCTAAAAAAACAAC	0.406												
ST18	9705	broad.mit.edu	37	8	53055565	53055565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:53055564_53055564CT>C	uc003xqz.2	-	11	2250	c.2094_2094AG>G	c.(2092-2094)aagfs	p.K698fs	ST18_uc011ldq.1_Frame_Shift_Del_p.K345fs|ST18_uc011ldr.1_Frame_Shift_Del_p.K663fs|ST18_uc011lds.1_Frame_Shift_Del_p.K603fs|ST18_uc003xra.2_Frame_Shift_Del_p.K698fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCCAGGAAACTTTTTTTCCT	0.428												
SULF1	23213	broad.mit.edu	37	8	70541813	70541815	+	In_Frame_Del	DEL	AGG	AGG	-	rs140600931		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70541812_70541814AAGG>A	uc003xyg.2	+	17	2743_2745	c.2182_2184AAGG>A	c.(2182-2184)aag>A	p.K728del	SULF1_uc010lza.1_In_Frame_Del_p.K728del|SULF1_uc003xyd.2_In_Frame_Del_p.K728del|SULF1_uc003xye.2_In_Frame_Del_p.K728del|SULF1_uc003xyf.2_In_Frame_Del_p.K728del|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	728				K -> R (in Ref. 4; BAC11258).	apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.K728N(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGGAGAGGAAGGAGAAGAGAC	0.527												
KCNB2	9312	broad.mit.edu	37	8	73480092	73480092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:73480091_73480091TG>T	uc003xzb.3	+	1	710	c.122_122TG>T	c.(121-123)gtgfs	p.V41fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTC	0.562												
ZFHX4	79776	broad.mit.edu	37	8	77767090	77767090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:77767089_77767089GA>G	uc003yau.2	+	9	8319	c.7932_7932GA>G	c.(7930-7932)ctgfs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGG	0.512										HNSCC(33;0.089)		
CA2	760	broad.mit.edu	37	8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGTTCTAGGTATTTTTTTGAA	0.388												
OSGIN2	734	broad.mit.edu	37	8	90937618	90937619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:90937617_90937618C>CT	uc003yeh.3	+	5	1767_1768	c.1507_1508C>CT	c.(1507-1509)cttfs	p.L503fs	OSGIN2_uc003yeg.3_Frame_Shift_Ins_p.L459fs	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	459					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGAAGCCAACCTTTTTGCATTG	0.421												
NBN	4683	broad.mit.edu	37	8	90949256	90949256	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:90949255_90949255TA>T	uc003yej.1	-	15	2344	c.2234_splice	c.e15+1	p.R745_splice	NBN_uc011lgb.1_Splice_Site_p.D738_splice|NBN_uc003yei.1_Splice_Site_p.R663_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	745					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAACTTTACCTAAAAAGATCA	0.299								Homologous recombination				
SLC26A7	115111	broad.mit.edu	37	8	92401631	92401632	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:92401630_92401631C>CT	uc003yez.3	+	15	1979_1980	c.1740_1741C>CT	c.(1738-1743)acctttfs	p.T580fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.T580fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.T580fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	580	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTGGATTTACCTTTTTTGACTA	0.401												
KLF10	7071	broad.mit.edu	37	8	103663533	103663534	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:103663532_103663533GGA>G	uc011lhk.1	-	2	1181_1182	c.1027_1028TCC>C	c.(1027-1029)cccfs	p.P343fs	KLF10_uc011lhj.1_Frame_Shift_Del_p.P332fs	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	343					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGGGGCAATGGGAGAGAGTCTG	0.545												
KHDRBS3	10656	broad.mit.edu	37	8	136594256	136594256	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:136594255_136594255TC>T	uc003yuv.3	+	5	1140	c.746_746TC>T	c.(745-747)gtcfs	p.V249fs	KHDRBS3_uc003yuw.3_Frame_Shift_Del_p.V249fs|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	249	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCAAGAGGAGTCCCCCCAACT	0.562												
RLN2	6019	broad.mit.edu	37	9	5304561	5304562	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:5304560_5304561G>GA	uc003zja.1	-	0	20_21	c.20_21C>TC	c.(19-21)ttcfs	p.F7fs	RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535												
NFX1	4799	broad.mit.edu	37	9	33294844	33294846	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:33294843_33294845CCTT>C	uc003zsr.3	+	1	604_606	c.451_453CCTT>C	c.(451-453)cct>C	p.P151del	NFX1_uc011lnw.2_In_Frame_Del_p.P151del|NFX1_uc003zso.3_In_Frame_Del_p.P151del|NFX1_uc003zsp.2_In_Frame_Del_p.P151del|NFX1_uc010mjr.2_In_Frame_Del_p.P151del|NFX1_uc003zsq.3_In_Frame_Del_p.P151del	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	151					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAGCATAGTCCTTCTGAGAGTG	0.483												
VPS13A	23230	broad.mit.edu	37	9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:79984307_79984307AT>A	uc004akr.3	+	62	8906	c.8646_8646AT>A	c.(8644-8646)gcafs	p.A2882fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A2843fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2882					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGTAGAAGCATTTTTTTATG	0.299												
TLE4	7091	broad.mit.edu	37	9	82335100	82335100	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:82335099_82335099GC>G	uc004ald.3	+	16	2653	c.1804_1804GC>G	c.(1804-1806)gccfs	p.A602fs	TLE4_uc004alc.3_Frame_Shift_Del_p.A577fs|TLE4_uc010mpr.3_Frame_Shift_Del_p.A456fs|TLE4_uc004ale.3_Frame_Shift_Del_p.A214fs|TLE4_uc011lsq.2_Frame_Shift_Del_p.A545fs|TLE4_uc010mps.3_Frame_Shift_Del_p.A501fs|TLE4_uc004alf.3_Frame_Shift_Del_p.A516fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACATCCTCGGCCCCCGCCTG	0.597												
INVS	27130	broad.mit.edu	37	9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:103054982_103054982CG>C	uc004bap.1	+	13	2655	c.2443_2443CG>C	c.(2443-2445)cggfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	815					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGCAGTGCCCGGGGGGAGGC	0.587												
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:116246503_116246505ACTT>A	uc004bhq.3	+	6	820_822	c.611_613ACTT>A	c.(610-615)cacttc>cAtc	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCCACGAGCACTTCTTCTTGTA	0.468												
CIZ1	25792	broad.mit.edu	37	9	130943047	130943048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:130943046_130943047T>TG	uc011mas.2	-	5	890_891	c.725_726A>CA	c.(724-726)ccafs	p.P242fs	CIZ1_uc004btr.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004bts.3_Frame_Shift_Ins_p.P183fs|CIZ1_uc011maq.2_Frame_Shift_Ins_p.P207fs|CIZ1_uc004btu.3_Frame_Shift_Ins_p.P188fs|CIZ1_uc004btt.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc011mar.2_Frame_Shift_Ins_p.P111fs|CIZ1_uc004btw.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004btv.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004btx.2_Frame_Shift_Ins_p.P188fs	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	212						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGACCCCTCTGGGGGGTCTGA	0.564												
DDX31	64794	broad.mit.edu	37	9	135537941	135537941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135537940_135537940AT>A	uc004cbq.1	-	1	685	c.533_533AT>T	c.(532-534)atgfs	p.M178fs	DDX31_uc010mzu.1_Frame_Shift_Del_p.M178fs|DDX31_uc004cbr.1_Frame_Shift_Del_p.M178fs|DDX31_uc004cbs.2_Frame_Shift_Del_p.M178fs	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	178						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGGAGAAAACATTTTTTGTGC	0.423												
TRAF2	7186	broad.mit.edu	37	9	139820212	139820213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139820211_139820212C>CT	uc004cjv.3	+	10	1421_1422	c.1364_1365C>CT	c.(1363-1365)tctfs	p.S455fs	TRAF2_uc010nbu.3_Frame_Shift_Ins_p.S455fs|TRAF2_uc011mek.2_Frame_Shift_Ins_p.S444fs|TRAF2_uc010nbw.3_Frame_Shift_Ins_p.S430fs	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	455	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACTTCATCCTCTTTTCAGAGGC	0.579												
NOXA1	10811	broad.mit.edu	37	9	140325730	140325730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:140325729_140325729GC>G	uc004cmu.3	+	7	875	c.740_740GC>G	c.(739-741)ggcfs	p.G247fs	NOXA1_uc004cmv.3_Frame_Shift_Del_p.G247fs|NOXA1_uc010nch.3_Frame_Shift_Del_p.G191fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	247					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		ACCCACCAGGGCCCCCTCGAT	0.677												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
UPF2	26019	broad.mit.edu	37	10	11994207	11994208	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:11994206_11994207CTT>C	uc001ila.3	-	13	3366_3367	c.2892_2893AAG>G	c.(2890-2895)aaagacfs	p.K964fs	UPF2_uc001ilb.3_Frame_Shift_Del_p.K964fs|UPF2_uc001ilc.3_Frame_Shift_Del_p.K964fs|UPF2_uc009xiz.2_Frame_Shift_Del_p.K964fs	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	964	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding	p.D965H(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATGGATGGTCTTTTGTCCAAA	0.307												
CUL2	8453	broad.mit.edu	37	10	35351916	35351917	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:35351915_35351916C>CA	uc010qer.2	-	2	355_356	c.251_252G>TG	c.(250-252)ttgfs	p.L84fs	CUL2_uc021ppa.1_Frame_Shift_Ins_p.L78fs|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Frame_Shift_Ins_p.L65fs|CUL2_uc001ixw.3_Frame_Shift_Ins_p.L65fs|CUL2_uc010qes.2_Frame_Shift_Ins_p.L65fs	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	65					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.L65fs*10(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGATTTTCCAAAAAAATCTT	0.312												
PCDH15	65217	broad.mit.edu	37	10	55568902	55568904	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:55568901_55568903TCTC>T	uc021pqw.1	-	35	5311_5313	c.4916_4918GAGA>A	c.(4915-4920)gagagt>gAgt	p.S1641del	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_In_Frame_Del_p.S1636del|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGGTGGAACTCTCCTCCTCCTC	0.468										HNSCC(58;0.16)		
H2AFY2	55506	broad.mit.edu	37	10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAG	0.592												
USP54	159195	broad.mit.edu	37	10	75335385	75335385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:75335384_75335384AC>A	uc001juo.3	-	0	50	c.33_33GT>T	c.(31-33)ggtfs	p.G11fs	USP54_uc001jup.3_Frame_Shift_Del_p.G11fs|USP54_uc010qkl.1_Frame_Shift_Del_p.G11fs	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	11					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CACTACCACGACCCCCTGAAA	0.453												
LGI1	9211	broad.mit.edu	37	10	95552602	95552602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95552601_95552601GC>G	uc001kjc.4	+	5	941	c.605_605GC>G	c.(604-606)ggcfs	p.G202fs	LGI1_uc021pwk.1_Frame_Shift_Del_p.G202fs|LGI1_uc010qnv.2_Frame_Shift_Del_p.G154fs|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAA	0.423												
BTRC	8945	broad.mit.edu	37	10	103310573	103310574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:103310572_103310573A>AC	uc001kta.3	+	13	1886_1887	c.1773_1774A>AC	c.(1771-1776)gaacccfs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Ins_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Ins_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431												
RIC3	79608	broad.mit.edu	37	11	8159021	8159021	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:8159020_8159020TA>T	uc010rbm.1	-	4	482	c.428_splice	c.e4-1	p.T143_splice	RIC3_uc001mgb.2_Splice_Site|RIC3_uc010rbl.1_Splice_Site_p.T93_splice|RIC3_uc001mgd.2_Splice_Site_p.T143_splice|RIC3_uc001mgc.2_Splice_Site_p.T143_splice|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	143						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAAAACTGGCTAAAAAATAAG	0.388												
DENND5A	23258	broad.mit.edu	37	11	9171679	9171679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:9171678_9171678CT>C	uc001mhl.3	-	14	2942	c.2685_2685AG>G	c.(2683-2685)aagfs	p.K895fs	DENND5A_uc001mhk.3_Frame_Shift_Del_p.K238fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.K895fs|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	895	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGAAAGTAACTTTTTTTCCA	0.517												
KCNA4	3739	broad.mit.edu	37	11	30032940	30032940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:30032939_30032939AC>A	uc021qfi.1	-	0	1287	c.1287_1287GT>T	c.(1285-1287)ggtfs	p.G429fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.G429fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	429						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACCATTGCCACCCCCCTGTT	0.498												
TCP11L1	55346	broad.mit.edu	37	11	33087372	33087375	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:33087371_33087374TACAG>T	uc001mud.3	+	8	1373	c.973_splice	c.e8-2	p.T325_splice	TCP11L1_uc009yju.3_Splice_Site_p.T140_splice|TCP11L1_uc010rei.2_Splice_Site_p.T325_splice|TCP11L1_uc001mue.3_Splice_Site_p.T325_splice|TCP11L1_uc001muf.1_Splice_Site	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	325										kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCTATTCATTACAGACAGTTTTA	0.593											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DGKZ	8525	broad.mit.edu	37	11	46394213	46394213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:46394212_46394212CG>C	uc001ncn.1	+	12	1745	c.1620_1620CG>C	c.(1618-1620)tgcfs	p.C540fs	DGKZ_uc001nch.2_Frame_Shift_Del_p.C368fs|DGKZ_uc010rgq.2_Frame_Shift_Del_p.C334fs|DGKZ_uc010rgr.2_Frame_Shift_Del_p.C356fs|DGKZ_uc001ncj.2_Frame_Shift_Del_p.C318fs|DGKZ_uc001nck.2_Frame_Shift_Del_p.C130fs|DGKZ_uc001ncm.2_Frame_Shift_Del_p.C351fs|DGKZ_uc001ncl.2_Frame_Shift_Del_p.C352fs|DGKZ_uc009yky.1_Frame_Shift_Del_p.C352fs|DGKZ_uc010rgs.1_Frame_Shift_Del_p.C329fs	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	540	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCCTGGCGTGCGGGGGCGACG	0.662												
DAK	26007	broad.mit.edu	37	11	61112761	61112761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:61112760_61112760AC>A	uc001nre.3	+	13	1526	c.1269_1269AC>A	c.(1267-1269)ccafs	p.P423fs	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Frame_Shift_Del_p.P353fs	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	423	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAGGGCCCACCCCCTGCCA	0.627												
EML3	256364	broad.mit.edu	37	11	62378802	62378802	+	Frame_Shift_Del	DEL	G	G	-	rs11553576	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62378801_62378801TG>T	uc010rly.1	-	2	518	c.210_210CA>A	c.(208-210)ccafs	p.P70fs	EML3_uc001ntr.1_Frame_Shift_Del_p.P42fs|EML3_uc001nts.1_Frame_Shift_Del_p.P42fs|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Frame_Shift_Del_p.P70fs|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	70						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTGGCAGTCCTGGGGGGGCTG	0.602												
CDC42EP2	10435	broad.mit.edu	37	11	65088586	65088586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65088585_65088585GC>G	uc021qli.1	+	0	216	c.216_216GC>G	c.(214-216)gggfs	p.G72fs	CDC42EP2_uc001odl.3_Frame_Shift_Del_p.G72fs	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	72					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TGGTGGAGGGGCCTGAAGAAG	0.632												
LTBP3	4054	broad.mit.edu	37	11	65314283	65314284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65314282_65314283G>GC	uc001oej.3	-	14	2485_2486	c.2216_2217C>GC	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Ins_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Ins_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Ins_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Ins_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Ins_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGCT	0.728												
KLC2	64837	broad.mit.edu	37	11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652												
RSF1	51773	broad.mit.edu	37	11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:77413115_77413115GT>G	uc001oyn.3	-	5	1279	c.1159_1159AC>C	c.(1159-1161)cgafs	p.R387fs	RSF1_uc001oym.3_Frame_Shift_Del_p.R135fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	387					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTAATTTCTCGTTTTTTTAGT	0.338												
CEP164	22897	broad.mit.edu	37	11	117261750	117261751	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117261749_117261750GAA>G	uc001prc.3	+	16	2248_2249	c.2101_2102GAA>G	c.(2101-2103)gaafs	p.E701fs	CEP164_uc001prb.3_Frame_Shift_Del_p.E704fs|CEP164_uc010rxk.1_Frame_Shift_Del_p.E675fs|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.E134fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	701	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAACTGAGAGAAGAGTTGGAG	0.569												
CD4	920	broad.mit.edu	37	12	6924043	6924044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6924042_6924043A>AG	uc001qqv.2	+	4	749_750	c.491_492A>AG	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Ins_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564												
KRT73	319101	broad.mit.edu	37	12	53012262	53012262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53012261_53012261GC>G	uc001sas.3	-	0	83	c.48_48GC>C	c.(46-48)ggcfs	p.G16fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	16	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCGCTGAAGCCCCCCTTGG	0.612												
KRT2	3849	broad.mit.edu	37	12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53044121_53044123ACTT>A	uc001sat.3	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	267	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTGCCACCTACTTCTTCTTATA	0.453												
LRP1	4035	broad.mit.edu	37	12	57556223	57556223	+	Frame_Shift_Del	DEL	C	C	-	rs34108076		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57556222_57556222AC>A	uc001snd.3	+	13	2791	c.2325_2325AC>A	c.(2323-2325)gcafs	p.A775fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	775					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TAGGAGGCGCACCCCCCACTG	0.602												
LRP1	4035	broad.mit.edu	37	12	57603940	57603941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57603939_57603940G>GC	uc001snd.3	+	80	13033_13034	c.12567_12568G>GC	c.(12565-12570)acgcccfs	p.T4189fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4189					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639												
CYP27B1	1594	broad.mit.edu	37	12	58157486	58157486	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:58157485_58157485TG>T	uc001spz.1	-	7	1474	c.1322_1322CA>A	c.(1321-1323)cacfs	p.H441fs	CYP27B1_uc001sqa.1_Frame_Shift_Del_p.H206fs	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	441					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|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	p.H441fs*33(1)		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)	TGCAAATGGGTGGGGGGTGGG	0.577												
PPM1H	57460	broad.mit.edu	37	12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGAAGCGTGTGGGGGGCGTG	0.642												
ZFC3H1	196441	broad.mit.edu	37	12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:72038780_72038780AT>A	uc001swo.2	-	3	1515	c.1156_1156AT>T	c.(1156-1158)tggfs	p.W386fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	386					RNA processing	intracellular	metal ion binding	p.K385fs*9(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGCCATTTTTTACTG	0.353												
SLC6A15	55117	broad.mit.edu	37	12	85285889	85285889	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:85285888_85285888AT>A	uc001szv.3	-	1	505	c.12_12AT>T	c.(10-12)aatfs	p.N4fs	SLC6A15_uc010sul.2_Intron|SLC6A15_uc001szy.3_Frame_Shift_Del_p.N4fs	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	4					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCACCTTGCTATTTTTGGGCA	0.333												
NAA25	80018	broad.mit.edu	37	12	112485490	112485490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:112485489_112485489GA>G	uc001ttm.3	-	16	2044	c.1986_1986TC>C	c.(1984-1986)ttcfs	p.F662fs	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Frame_Shift_Del_p.F634fs|NAA25_uc009zwa.2_Frame_Shift_Del_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	662						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GATCCCAGCTGAAAAAAACAT	0.353												
KDM2B	84678	broad.mit.edu	37	12	122018740	122018740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122018739_122018739CT>C	uc001uat.3	-	0	182	c.78_78AG>G	c.(76-78)aagfs	p.K26fs	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Frame_Shift_Del_p.K26fs|KDM2B_uc001uav.4_Frame_Shift_Del_p.K26fs	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	26					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						TAACTGTTTTCTTTTTTTGCT	0.507												
DNAH10	196385	broad.mit.edu	37	12	124274577	124274578	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:124274576_124274577A>AC	uc001uft.4	+	10	1565_1566	c.1540_1541A>AC	c.(1540-1542)accfs	p.T514fs	DNAH10_uc010tav.1_5'UTR|DNAH10_uc010taw.1_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	514	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGCCTAGTCACCCCCATGGAA	0.470												
NBEA	26960	broad.mit.edu	37	13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:36125103_36125103TA>T	uc021rid.1	+	42	7274	c.6740_6740TA>T	c.(6739-6741)gtafs	p.V2247fs	NBEA_uc021ric.1_Frame_Shift_Del_p.V2244fs|NBEA_uc010abi.3_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAAGCAACAGTAAAAAAAGTT	0.378												
POSTN	10631	broad.mit.edu	37	13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:38144789_38144789AT>A	uc001uwo.4	-	18	2315	c.2197_2197AT>T	c.(2197-2199)tacfs	p.Y733fs	POSTN_uc010tet.2_Frame_Shift_Del_p.Y234fs|POSTN_uc001uwp.4_Frame_Shift_Del_p.Y676fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.Y706fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.Y676fs|POSTN_uc010teu.1_Frame_Shift_Del_p.Y706fs|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	733					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTTTGGTGTATTTTTTAATA	0.338												
CCDC70	83446	broad.mit.edu	37	13	52439693	52439693	+	RNA	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:52439692_52439692GA>G	uc010tgr.1	-	0		c.528_528TC>C			CCDC70_uc001vfu.4_Frame_Shift_Del_p.E60fs|CCDC70_uc021rjv.1_Frame_Shift_Del_p.E60fs			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AATTTTTCGTGAAAAAATAGA	0.498												
OLFM4	10562	broad.mit.edu	37	13	53608482	53608484	+	Splice_Site	DEL	GTT	GTT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:53608481_53608483AGTT>A	uc001vhl.3	+	2	301	c.205_splice	c.e2-1	p.L69_splice	OLFM4_uc001vhk.2_Splice_Site_p.L69_splice	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	69	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TATTATTTGCAGTTGTTTTCCAA	0.483												
LMO7	4008	broad.mit.edu	37	13	76393555	76393555	+	Frame_Shift_Del	DEL	A	A	-	rs34219193		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:76393554_76393554GA>G	uc021rkq.1	+	12	2425	c.2090_2090GA>G	c.(2089-2091)cgafs	p.R697fs	LMO7_uc010thv.2_Frame_Shift_Del_p.R415fs|LMO7_uc001vjt.1_Frame_Shift_Del_p.R363fs|LMO7_uc001vjv.3_Frame_Shift_Del_p.R464fs|LMO7_uc010thw.2_Frame_Shift_Del_p.R314fs|LMO7_uc001vjw.1_Frame_Shift_Del_p.R370fs	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	749						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R415Q(1)|p.R749Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATCGTCGAAAAAGTTAC	0.408												
UGGT2	55757	broad.mit.edu	37	13	96684171	96684172	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:96684170_96684171GCA>G	uc001vmt.3	-	1	383_384	c.213_214TGC>C	c.(211-216)gtgcaafs	p.V71fs	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Frame_Shift_Del_p.V71fs	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	71					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.Q72R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTAATTCTTGCACAGTTTCCA	0.248												
COL4A2	1284	broad.mit.edu	37	13	111114502	111114502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:111114501_111114501CA>C	uc001vqx.3	+	22	1926	c.1637_1637CA>C	c.(1636-1638)gcafs	p.A546fs		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	546	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAAAGGAGCAAAAGGAGAT	0.542												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTG	0.418												
NOVA1	4857	broad.mit.edu	37	14	26917309	26917310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:26917308_26917309C>CT	uc001wqa.3	-	5	1800_1801	c.1014_1015G>AG	c.(1012-1017)aaaggafs	p.K338fs	NOVA1_uc001wpy.3_Frame_Shift_Ins_p.K460fs|NOVA1_uc001wpz.3_Frame_Shift_Ins_p.K436fs	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	463	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACGAATTCTCCTTTTTTGGAGA	0.431												
CLMN	79789	broad.mit.edu	37	14	95669614	95669614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:95669613_95669613TG>T	uc001yef.2	-	8	2189	c.2073_2073CA>A	c.(2071-2073)ccafs	p.P691fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	691						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CACAGCTGCTTGGGGGGCTGG	0.557												
TECPR2	9895	broad.mit.edu	37	14	102901068	102901068	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:102901067_102901067CT>C	uc001ylw.2	+	8	2139	c.1913_1913CT>C	c.(1912-1914)actfs	p.T638fs	TECPR2_uc010awl.3_Frame_Shift_Del_p.T638fs|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	638							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCCCAAAGCACTTTTTGTGAA	0.557												
CYFIP1	23191	broad.mit.edu	37	15	22928513	22928513	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:22928512_22928512TA>T	uc001yus.3	+	5	491	c.387_splice	c.e5+2	p.Q129_splice	CYFIP1_uc001yut.3_Splice_Site_p.Q129_splice|CYFIP1_uc010aya.1_Splice_Site_p.Q157_splice	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	129					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TACTTCCAGGTAAAATGGCAA	0.493												
MAPKBP1	23005	broad.mit.edu	37	15	42110453	42110453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:42110452_42110452AT>A	uc001zok.4	+	18	2345	c.2059_2059AT>A	c.(2059-2061)attfs	p.I687fs	MAPKBP1_uc010bci.3_Frame_Shift_Del_p.I681fs|MAPKBP1_uc010udb.2_Frame_Shift_Del_p.I520fs|MAPKBP1_uc001zoj.4_Frame_Shift_Del_p.I681fs|MAPKBP1_uc010bcj.3_Frame_Shift_Del_p.I188fs|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Frame_Shift_Del_p.I188fs	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	687										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAATCTCTCCATTTTTGACTT	0.542												
B2M	567	broad.mit.edu	37	15	45003781	45003784	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs11553044		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:45003780_45003783ACTCT>A	uc001zuc.3	+	0	96_99	c.36_39ACTCT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTCTG	0.613												
FBXL22	283807	broad.mit.edu	37	15	63889654	63889656	+	In_Frame_Del	DEL	CTC	CTC	-	rs141944790	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:63889653_63889655TCTC>T	uc002amn.3	+	0	102_104	c.44_46TCTC>T	c.(43-48)ttctcc>tTcc	p.S16del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.S16del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						CTGCACCTCTTCTCCTTCCTAGA	0.626												
NOX5	79400	broad.mit.edu	37	15	69328220	69328222	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69328219_69328221GCTC>G	uc002ars.2	+	6	1172_1174	c.1131_1133GCTC>G	c.(1129-1134)ctgctc>ctGc	p.377_378LL>L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_In_Frame_Del_p.331_332LL>L|NOX5_uc002arp.2_In_Frame_Del_p.359_360LL>L|NOX5_uc010bid.2_In_Frame_Del_p.342_343LL>L|NOX5_uc010bie.2_In_Frame_Del_p.177_178LL>L|NOX5_uc002arr.2_In_Frame_Del_p.349_350LL>L|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	377	Ferric oxidoreductase.|Poly-Leu.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.L359L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGCTGCTGCTCCTCCTCATG	0.626												
LRRC49	54839	broad.mit.edu	37	15	71272473	71272474	+	Frame_Shift_Ins	INS	-	-	A	rs34188459		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71272472_71272473C>CA	uc010ukf.2	+	9	1275_1276	c.969_970C>CA	c.(967-972)gccaaafs	p.A323fs	LRRC49_uc002asu.3_Frame_Shift_Ins_p.A308fs|LRRC49_uc002asx.3_Frame_Shift_Ins_p.A274fs|LRRC49_uc002asw.3_Frame_Shift_Ins_p.A318fs|LRRC49_uc002asy.3_Frame_Shift_Ins_p.A24fs|LRRC49_uc002asz.3_Frame_Shift_Ins_p.A290fs	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	318						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTTTTAGCCAAAAAAGAGGA	0.356												
IREB2	3658	broad.mit.edu	37	15	78762935	78762935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:78762934_78762934GT>G	uc002bdr.2	+	5	852	c.690_690GT>G	c.(688-690)cagfs	p.Q230fs	IREB2_uc010unb.1_Intron|IREB2_uc002bdq.3_Frame_Shift_Del_p.Q230fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	230							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGAGGCTTCAGTTTTTTAAGG	0.289												
ADAMTS7	11173	broad.mit.edu	37	15	79051796	79051796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:79051795_79051795AG>A	uc002bej.4	-	23	5240	c.5029_5029CT>T	c.(5029-5031)tccfs	p.S1677fs		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1677					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGCCTCGGGAGGGGGCGCCG	0.731												
FAH	2184	broad.mit.edu	37	15	80478482	80478482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:80478481_80478481AG>A	uc002bfm.2	+	13	1354	c.1190_1190AG>A	c.(1189-1191)cagfs	p.Q397fs	FAH_uc002bfn.2_Frame_Shift_Del_p.Q327fs	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	397					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGTACTGCCAGGGGGATGGT	0.567									Tyrosinemia, type 1			
WDR90	197335	broad.mit.edu	37	16	709106	709107	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:709105_709106G>GC	uc002cii.1	+	24	3085_3086	c.3031_3032G>GC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Ins_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Ins_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTCCCCGGGGCCCCCCCAGCC	0.658												
TSC2	7249	broad.mit.edu	37	16	2098716	2098716	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2098715_2098715TA>T	uc002con.3	+	1	205	c.99_99TA>T	c.(97-99)ggtfs	p.G33fs	TCRBV20S1_uc021tak.1_Intron|NTHL1_uc002col.1_5'Flank|TSC2_uc010uvu.1_Frame_Shift_Del_p.G33fs|TSC2_uc010bsd.3_Frame_Shift_Del_p.G33fs|TSC2_uc002coo.3_Frame_Shift_Del_p.G33fs|TSC2_uc010uvv.2_Frame_Shift_Del_p.G33fs|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_5'UTR	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	33	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCAGAGGGTAAACAGACGG	0.498			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
MGRN1	23295	broad.mit.edu	37	16	4732864	4732866	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:4732863_4732865TGAG>T	uc002cxa.3	+	13	1535_1537	c.1398_1400TGAG>T	c.(1396-1401)gatgag>gaTg	p.E468del	MGRN1_uc002cwz.3_In_Frame_Del_p.E468del|MGRN1_uc010uxo.2_In_Frame_Del_p.E446del|MGRN1_uc010uxp.2_In_Frame_Del_p.E446del|MGRN1_uc010btw.3_In_Frame_Del_p.E447del|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	468					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E467K(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACGAAGAGGATGAGGAGAAGCTC	0.670												
TEKT5	146279	broad.mit.edu	37	16	10788457	10788457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10788456_10788456TG>T	uc002czz.1	-	0	347	c.275_275CA>A	c.(274-276)cacfs	p.H92fs		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	92					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GTCCCAGTCGTGGGGGCTATA	0.682												
MT4	84560	broad.mit.edu	37	16	56602769	56602770	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:56602768_56602769G>GC	uc002eje.1	+	2	193_194	c.113_114G>GC	c.(112-114)tgcfs	p.C38fs		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599												
LRRC36	55282	broad.mit.edu	37	16	67418824	67418824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67418823_67418823CA>C	uc002esv.3	+	13	2115	c.2096_2096CA>C	c.(2095-2097)ccafs	p.P699fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc002esx.3_Frame_Shift_Del_p.P578fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.P474fs|LRRC36_uc010vjl.2_Frame_Shift_Del_p.P171fs	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	699										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AATAAGGAGCCAAAAGGTTAT	0.498												
NFAT5	10725	broad.mit.edu	37	16	69703941	69703943	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:69703940_69703942GAGA>G	uc002exm.2	+	6	1712_1714	c.1376_1378GAGA>G	c.(1375-1380)ggagaa>gGaa	p.E462del	NFAT5_uc002exj.2_In_Frame_Del_p.E386del|NFAT5_uc002exk.2_In_Frame_Del_p.E386del|NFAT5_uc002exl.2_In_Frame_Del_p.E480del|NFAT5_uc002exn.2_In_Frame_Del_p.E480del|NFAT5_uc002exh.2_In_Frame_Del_p.E256del|NFAT5_uc002exi.3_In_Frame_Del_p.E386del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	462					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P462P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCAGTGAAAGGAGAAGAAGAAGT	0.374												
ZFHX3	463	broad.mit.edu	37	16	72828435	72828435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72828434_72828434CA>C	uc002fck.3	-	8	8820	c.8147_8147TG>G	c.(8146-8148)tgcfs	p.C2716fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.C1802fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2716					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.C2716>?(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAGCGCTCTGCAAAAAGGGCA	0.567												
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCC	0.622												
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498												
CDH13	1012	broad.mit.edu	37	16	83065794	83065794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:83065793_83065793CG>C	uc010vns.2	+	3	741	c.477_477CG>C	c.(475-477)gtcfs	p.V159fs	CDH13_uc021tlw.1_Frame_Shift_Del_p.V112fs|CDH13_uc010chh.3_Frame_Shift_Del_p.V112fs|CDH13_uc002fgx.3_Frame_Shift_Del_p.V112fs|CDH13_uc010vnt.2_Intron|CDH13_uc010vnu.2_Frame_Shift_Del_p.V112fs	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	112	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCGTGATTGTCGGGGGGAAAG	0.493												
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:88694458_88694459A>AC	uc010voz.2	+	15	2672_2673	c.2472_2473A>AC	c.(2470-2475)gcacccfs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Ins_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGCA	0.609												
WDR81	124997	broad.mit.edu	37	17	1631634	1631634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:1631633_1631633AG>A	uc002ftj.2	+	0	3509	c.3380_3380AG>A	c.(3379-3381)gagfs	p.E1127fs	WDR81_uc002fth.2_Frame_Shift_Del_p.E76fs|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCCAGACGAGGGGGGTGCC	0.662												
ANKFY1	51479	broad.mit.edu	37	17	4085525	4085525	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4085524_4085524CG>C	uc002fxn.3	-	14	2316	c.2199_2199CG>G	c.(2197-2199)ccgfs	p.P733fs	ANKFY1_uc002fxo.3_Frame_Shift_Del_p.P692fs|ANKFY1_uc002fxp.3_Frame_Shift_Del_p.P690fs|ANKFY1_uc010ckp.3_Frame_Shift_Del_p.P633fs|ANKFY1_uc002fxq.1_Frame_Shift_Del_p.P691fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	691						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542												
SPNS3	201305	broad.mit.edu	37	17	4389805	4389805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4389804_4389804TG>T	uc002fxt.3	+	10	1420	c.1376_1376TG>T	c.(1375-1377)ctgfs	p.L459fs	SPNS3_uc002fxu.3_Frame_Shift_Del_p.L332fs|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	459					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GTCATCGCCCTGGGGGGCGGC	0.657												
INCA1	388324	broad.mit.edu	37	17	4892840	4892843	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4892839_4892842CTTCT>C	uc002gak.3	-	5	556_559	c.276_279AGAAG>G	c.(274-279)aagaagfs	p.K92fs	CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_Frame_Shift_Del_p.K77fs|INCA1_uc002gaj.3_Frame_Shift_Del_p.K92fs|INCA1_uc002gal.3_Frame_Shift_Del_p.K77fs	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	92						nucleus				upper_aerodigestive_tract(1)	1						ATGGCCTCCTCTTCTTTCTTCTCC	0.578												
MYOCD	93649	broad.mit.edu	37	17	12626278	12626279	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:12626277_12626278G>GA	uc002gno.2	+	4	666_667	c.367_368G>GA	c.(367-369)gaafs	p.E123fs	MYOCD_uc002gnn.2_Frame_Shift_Ins_p.E123fs|MYOCD_uc002gnp.1_Frame_Shift_Ins_p.E27fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	123					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAGCTGGTGGAAAAAAACATT	0.470												
SHMT1	6470	broad.mit.edu	37	17	18251660	18251660	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18251659_18251659AC>A	uc002gta.3	-	3	528	c.338_338GT>T	c.(337-339)gtcfs	p.V113fs	SHMT1_uc002gtb.3_Frame_Shift_Del_p.V113fs|SHMT1_uc010vxt.2_Intron|SHMT1_uc002gtd.1_Frame_Shift_Del_p.V113fs|SHMT1_uc010vxu.1_Frame_Shift_Del_p.V113fs	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGACGTTGACCCCCCAGCA	0.562												
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGATACTCACATTTTTTTACT	0.294												
MRM1	79922	broad.mit.edu	37	17	34964728	34964728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:34964727_34964727AG>A	uc002hne.3	+	4	1153	c.938_938AG>A	c.(937-939)gagfs	p.E313fs	MRM1_uc002hnf.3_Frame_Shift_Del_p.E118fs	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	313					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCCCCACAGAGGGGGAGAGA	0.567												
KRT31	3881	broad.mit.edu	37	17	39553720	39553720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:39553719_39553719TG>T	uc002hwn.3	-	0	126	c.73_73CA>A	c.(73-75)agcfs	p.S25fs	KRT31_uc010cxn.3_Frame_Shift_Del_p.S25fs	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	25	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTGTGGCAGCTGGGGGGCACG	0.657												
ETV4	2118	broad.mit.edu	37	17	41610701	41610701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:41610700_41610700TG>T	uc002idw.3	-	6	528	c.400_400CA>A	c.(400-402)agafs	p.R134fs	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Intron|ETV4_uc010czh.3_Frame_Shift_Del_p.R133fs|ETV4_uc010wii.2_Frame_Shift_Del_p.R95fs|ETV4_uc002idx.3_Frame_Shift_Del_p.R134fs|ETV4_uc010wij.2_Frame_Shift_Del_p.R95fs|ETV4_uc002idy.1_Frame_Shift_Del_p.R95fs	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCA	0.582			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""							
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
COX11	1353	broad.mit.edu	37	17	53040139	53040140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:53040138_53040139C>CA	uc010wng.1	-	3	843_844	c.786_787G>TG	c.(784-789)tttgaafs	p.F262fs	COX11_uc010wne.1_Intron|COX11_uc010wnf.1_Intron|COX11_uc002iue.2_Non-coding_Transcript	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TCCTTTGCTTCAAAAAAAGTGT	0.351												
SDK2	54549	broad.mit.edu	37	17	71394282	71394282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71394281_71394281TG>T	uc010dfm.3	-	23	3247	c.3247_3247CA>A	c.(3247-3249)agtfs	p.S1083fs	SDK2_uc002jjt.4_Frame_Shift_Del_p.S242fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.S762fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1083	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTG	0.622												
TMEM200C	645369	broad.mit.edu	37	18	5891698	5891698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:5891697_5891697AC>A	uc002kmx.1	-	0	407	c.366_366GT>T	c.(364-366)ggtfs	p.G122fs		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	122						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGGAGTTGACACCCCCTGGAG	0.687												
CTAGE1	64693	broad.mit.edu	37	18	19995706	19995706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:19995705_19995705TG>T	uc002ktv.1	-	0	2174	c.2070_2070CA>A	c.(2068-2070)ccafs	p.P690fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	690	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGAGGAGGTGGGGGGAAAG	0.498												
NOL4	8715	broad.mit.edu	37	18	31803157	31803157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:31803156_31803156TC>T	uc010dmi.3	-	0	360	c.62_62GA>A	c.(61-63)gacfs	p.D21fs	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Frame_Shift_Del_p.D21fs|NOL4_uc002kxt.4_Frame_Shift_Del_p.D21fs	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	21						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCCTGAGTCCCCGTAAGT	0.602												
SYT4	6860	broad.mit.edu	37	18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GATCGGAGCCATTTTTTACTG	0.493												
DCC	1630	broad.mit.edu	37	18	50976892	50976892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:50976891_50976891AC>A	uc002lfe.2	+	22	3867	c.3251_3251AC>A	c.(3250-3252)cacfs	p.H1084fs	DCC_uc010dpf.2_Frame_Shift_Del_p.H719fs	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1084					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGACAAATGCACCCCCCGCAT	0.493												
CCDC102B	79839	broad.mit.edu	37	18	66504103	66504103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:66504102_66504102AC>A	uc002lkk.2	+	3	325	c.102_102AC>A	c.(100-102)tcafs	p.S34fs	CCDC102B_uc002lki.2_Frame_Shift_Del_p.S34fs|CCDC102B_uc002lkj.1_Frame_Shift_Del_p.S34fs	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	34										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CACCTGCCTCACCCCCCAGGG	0.453												
CNDP2	55748	broad.mit.edu	37	18	72168668	72168668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:72168667_72168667TG>T	uc002llm.2	+	2	423	c.164_164TG>T	c.(163-165)ttgfs	p.L55fs	CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Frame_Shift_Del_p.L55fs	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	55						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCT	0.522												
ADNP2	22850	broad.mit.edu	37	18	77896564	77896565	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:77896563_77896564A>AT	uc002lnw.3	+	3	3722_3723	c.3267_3268A>AT	c.(3265-3270)tcatttfs	p.S1089fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1089					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGTGGCTTCATTTTTTGGAAA	0.307												
ELAVL1	1994	broad.mit.edu	37	19	8028414	8028414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8028413_8028413TC>T	uc002mjb.3	-	5	1102	c.935_935GA>A	c.(934-936)gacfs	p.D312fs		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	312	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAGATTTTGTCCCCCAGGCG	0.443												
OR10H3	26532	broad.mit.edu	37	19	15852693	15852693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15852692_15852692GT>G	uc010xoq.2	+	0	490	c.490_490GT>G	c.(490-492)gttfs	p.V164fs		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GACAATGATGGTTTTTCACCT	0.507												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
C19orf40	91442	broad.mit.edu	37	19	33464997	33464997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33464996_33464996GA>G	uc002nud.4	+	3	392	c.274_274GA>G	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418								Direct reversal of damage				
MLL2	8085	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SELV	348303	broad.mit.edu	37	19	40009541	40009543	+	Splice_Site	DEL	AGG	AGG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40009540_40009542CAGG>C	uc021uum.1	+	4	989	c.889_splice	c.e4-1	p.E297_splice		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	297					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCTCCCAGGAGGAGGACA	0.601												
CEACAM5	1048	broad.mit.edu	37	19	42224975	42224976	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:42224974_42224975AAC>A	uc002orl.3	+	7	2025_2026	c.1904_1905AAC>A	c.(1903-1905)caafs	p.Q635fs	CEACAM5_uc002orj.1_Frame_Shift_Del_p.Q634fs	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	635	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATACCGCAGCAACACACACAAG	0.495												
ZFP112	7771	broad.mit.edu	37	19	44833358	44833359	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:44833357_44833358ACT>A	uc010xwy.2	-	4	1139_1140	c.1021_1022AGT>T	c.(1021-1023)gtgfs	p.V341fs	ZFP112_uc010ejj.3_Frame_Shift_Del_p.V324fs|ZFP112_uc002ozc.4_Frame_Shift_Del_p.V318fs|ZFP112_uc010xwz.2_Frame_Shift_Del_p.V323fs	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTCTGTATGCACTCTCTGATAG	0.371												
MAMSTR	284358	broad.mit.edu	37	19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569												
NUP62	23636	broad.mit.edu	37	19	50412225	50412230	+	In_Frame_Del	DEL	GGTGGC	GGTGGC	-	rs140091070	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50412224_50412229TGGTGGC>T	uc002prb.3	-	1	1080_1085	c.836_841GCCACCA>A	c.(835-843)gccaccacc>gAcc	p.279_281ATT>D	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pqy.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pra.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pqz.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002prc.3_Splice_Site_p.T278_splice|NUP62_uc021uya.1_In_Frame_Del_p.279_281ATT>D	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	279	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ctgctggtggtggtggcggtggcggt	0.646												
BRSK1	84446	broad.mit.edu	37	19	55815036	55815037	+	Splice_Site	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579												
JAG1	182	broad.mit.edu	37	20	10620245	10620245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:10620244_10620244TG>T	uc002wnw.2	-	25	4075	c.3559_3559CA>A	c.(3559-3561)aacfs	p.N1187fs		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1187					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCGTGCCGTTGGGGGGCTTC	0.517									Alagille Syndrome			
CST1	1469	broad.mit.edu	37	20	23729754	23729754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23729753_23729753AC>A	uc002wtp.3	-	1	313	c.242_242GT>T	c.(241-243)gtgfs	p.V81fs		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAAC	0.552												
ACSS2	55902	broad.mit.edu	37	20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33502205_33502205TC>T	uc010gey.2	+	6	920	c.799_799TC>T	c.(799-801)tccfs	p.S267fs	ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAAT	0.537												
MMP9	4318	broad.mit.edu	37	20	44641172	44641172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:44641171_44641171AG>A	uc002xqz.3	+	7	1299	c.1280_1280AG>A	c.(1279-1281)gagfs	p.E427fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	427					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCTTCACTGAGGGGCCCCCC	0.622												
ARFGEF2	10564	broad.mit.edu	37	20	47605030	47605030	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47605029_47605029TA>T	uc002xtx.4	+	18	2514	c.2362_splice	c.e18-1	p.V788_splice	ARFGEF2_uc010zyf.2_Splice_Site_p.V81_splice	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	788					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAATTACAGGTAAAAAATAAA	0.294												
ZNFX1	57169	broad.mit.edu	37	20	47864399	47864399	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47864398_47864398CT>C	uc002xui.3	-	13	5410	c.5163_5163AG>G	c.(5161-5163)aagfs	p.K1721fs		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1721							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGACATGCATCTTTTTCAGGG	0.498												
SPATA2	9825	broad.mit.edu	37	20	48522803	48522803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:48522802_48522802TG>T	uc010gie.3	-	2	1267	c.917_917CA>A	c.(916-918)cacfs	p.H306fs	SPATA2_uc002xuw.3_Frame_Shift_Del_p.H306fs|SPATA2_uc010zyn.2_Frame_Shift_Del_p.H169fs	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	306					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCT	0.642												
DIDO1	11083	broad.mit.edu	37	20	61513486	61513487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:61513485_61513486C>CT	uc002ydr.2	-	15	4134_4135	c.3822_3823G>AG	c.(3820-3825)aaagtgfs	p.K1274fs	DIDO1_uc002yds.2_Frame_Shift_Ins_p.K1274fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1274	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GATGACAGCACTTTTAGCACCG	0.649												
KCNQ2	3785	broad.mit.edu	37	20	62038661	62038661	+	Frame_Shift_Del	DEL	G	G	-	rs118192242		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62038660_62038660CG>C	uc002yey.1	-	16	2133	c.1956_1956CG>G	c.(1954-1956)ccgfs	p.P652fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P621fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P634fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P624fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	652					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P651S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGGTCTCTGTCGGGGGGATGC	0.637												
IFNAR2	3455	broad.mit.edu	37	21	34655525	34655526	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34655524_34655525CTG>C	uc002yrl.1	+	3	1041_1042	c.630_631CTG>C	c.(628-633)gtctgtfs	p.V210fs	IFNAR2_uc002yri.1_Frame_Shift_Del_p.V161fs|IFNAR2_uc002yrh.1_Frame_Shift_Del_p.V278fs|IFNAR2_uc002yrk.1_Frame_Shift_Del_p.V208fs	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	229					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	p.V210F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTGAGCCTGTCTGTGAGCAAAC	0.490												
ITSN1	6453	broad.mit.edu	37	21	35122567	35122568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:35122566_35122567G>GC	uc002yta.1	+	5	733_734	c.465_466G>GC	c.(463-468)gtgcccfs	p.V155fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Frame_Shift_Ins_p.V39fs|ITSN1_uc002ysy.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ysx.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmg.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmi.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc002ytb.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytc.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmk.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Frame_Shift_Ins_p.V89fs|ITSN1_uc021wip.1_Frame_Shift_Ins_p.V49fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525												
DSCAM	1826	broad.mit.edu	37	21	41710097	41710097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:41710096_41710096TC>T	uc002yyq.1	-	7	2167	c.1715_1715GA>A	c.(1714-1716)gagfs	p.E572fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	572	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCACGTGTACTCCCCCTCGTC	0.502												
IL17RA	23765	broad.mit.edu	37	22	17589491	17589491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:17589490_17589490CG>C	uc002zly.3	+	12	1512	c.1381_1381CG>C	c.(1381-1383)cggfs	p.R461fs		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	461	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.A463fs*48(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCTGGGCCGGGGGGCGCC	0.667												
LZTR1	8216	broad.mit.edu	37	22	21340148	21340150	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21340147_21340149ACCT>A	uc002zto.3	+	2	384_386	c.281_283ACCT>A	c.(280-285)gacctc>gAtc	p.L96del	LZTR1_uc002ztn.3_In_Frame_Del_p.L55del|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	96					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGCTCAATGACCTCCTGCGGTT	0.601												
GNAZ	2781	broad.mit.edu	37	22	23438488	23438489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:23438487_23438488T>TG	uc002zwu.1	+	1	1142_1143	c.605_606T>TG	c.(604-606)gtgfs	p.V202fs	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574												
MN1	4330	broad.mit.edu	37	22	28196403	28196403	+	Frame_Shift_Del	DEL	C	C	-	rs34230249		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:28196402_28196402GC>G	uc003adj.3	-	0	1085	c.130_130GC>C	c.(130-132)cccfs	p.P44fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	44							binding	p.P44R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGGCCAGGGGGCCCCCCAGTG	0.642			T	ETV6	"""AML, meningioma"""							
OSM	5008	broad.mit.edu	37	22	30660117	30660118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:30660116_30660117G>GC	uc003ahb.3	-	2	555_556	c.514_515C>GC	c.(514-516)gccfs	p.A172fs		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	172					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CGGCTGAGAGGCCCCCCGGCCA	0.644												
MBTPS2	51360	broad.mit.edu	37	X	21887644	21887644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:21887643_21887643CT>C	uc004dae.3	+	6	1014	c.817_817CT>C	c.(817-819)cttfs	p.L273fs	MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Frame_Shift_Del_p.L273fs	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	273					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ACCCAGAGGCCTTTTTGTGGG	0.418												
DDX3X	1654	broad.mit.edu	37	X	41205517	41205517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:41205516_41205516CA>C	uc004dfe.3	+	12	2205	c.1350_1350CA>C	c.(1348-1350)accfs	p.T450fs	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Frame_Shift_Del_p.T450fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.T434fs|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	450	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.E449*(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTGTGGAGACCAAAAAGGGTG	0.438										HNSCC(61;0.18)		
TAF1	6872	broad.mit.edu	37	X	70603000	70603001	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70602999_70603000C>CA	uc004dzu.4	+	11	1980_1981	c.1929_1930C>CA	c.(1927-1932)atcaaafs	p.I643fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Ins_p.I664fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	643					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAAAGCACATCAAAAAAAAGGC	0.406												
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
FHL1	2273	broad.mit.edu	37	X	135289289	135289290	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:135289288_135289289C>CA	uc004ezo.3	+	3	599_600	c.270_271C>CA	c.(268-273)aacaagfs	p.N90fs	FHL1_uc010nrz.2_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezq.2_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Frame_Shift_Ins_p.N90fs|FHL1_uc011mvy.1_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezn.2_Frame_Shift_Ins_p.N90fs|FHL1_uc022ceu.1_Frame_Shift_Ins_p.N90fs|FHL1_uc011mwa.1_Frame_Shift_Ins_p.N119fs|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Frame_Shift_Ins_p.N106fs|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	90	LIM zinc-binding 1.			VAKDNKILCNK -> CGQGQQRSCAQ (in Ref. 4; AAD21579).	cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TCCTGTGCAACAAGTGCACCAC	0.599												
AFF2	2334	broad.mit.edu	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:147733547_147733547TA>T	uc004fcp.3	+	1	554	c.75_75TA>T	c.(73-75)cttfs	p.L25fs	AFF2_uc004fco.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcq.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L25fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L25fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L25fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	25					RNA splicing|brain development|mRNA processing|regulation of 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)					GTAGTGCACTTAAAAAAAGGG	0.378