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
AJAP1	55966	broad.mit.edu	37	1	4832493	4832493	+	Silent	SNP	T	T	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:4832493T>C	uc001alm.1	+	4	1452	c.1071T>C	c.(1069-1071)TCT>TCC	p.S357S	AJAP1_uc001aln.2_Silent_p.S357S	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	357	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCAGTGTTCTCACGAGTGCG	0.587												
TNFRSF9	3604	broad.mit.edu	37	1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	rs143524950		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:7993258G>A	uc001aot.2	-	7	771	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	215	Cytoplasmic (Potential).|Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428												
VPS13D	55187	broad.mit.edu	37	1	12317070	12317070	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:12317070C>A	uc001atv.2	+	9	1008	c.867C>A	c.(865-867)TTC>TTA	p.F289L	VPS13D_uc001atw.2_Missense_Mutation_p.F289L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	289					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATGGAATTCCTCAAGGAGC	0.423												
UBR4	23352	broad.mit.edu	37	1	19465681	19465681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:19465681G>A	uc001bbi.2	-	59	8631	c.8627C>T	c.(8626-8628)GCG>GTG	p.A2876V	UBR4_uc001bbk.1_Missense_Mutation_p.A523V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2876					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCTGTCGCTGCTGTACT	0.498												
WNT4	54361	broad.mit.edu	37	1	22446680	22446680	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:22446680C>G	uc001bfs.3	-	5	1023	c.919G>C	c.(919-921)GAG>CAG	p.E307Q	WNT4_uc010odt.1_Missense_Mutation_p.E244Q	NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	307					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACAGCAGCTCACAGCCGTCG	0.652												
STK40	83931	broad.mit.edu	37	1	36826900	36826900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:36826900C>T	uc001cak.1	-	3	441	c.34G>A	c.(34-36)GAA>AAA	p.E12K	STK40_uc001cal.1_Missense_Mutation_p.E12K|STK40_uc001cam.1_Missense_Mutation_p.E12K|STK40_uc009vva.1_Missense_Mutation_p.E12K|STK40_uc001can.1_Missense_Mutation_p.E12K	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	12						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				GCCGACGTTTCCCCAGCTCCT	0.498												
SLC44A3	126969	broad.mit.edu	37	1	95330312	95330312	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:95330312C>G	uc001dqv.3	+	11	1359	c.1252C>G	c.(1252-1254)CCT>GCT	p.P418A	SLC44A3_uc001dqx.3_Missense_Mutation_p.P418A|SLC44A3_uc010otq.1_Missense_Mutation_p.P350A|SLC44A3_uc010otr.1_Missense_Mutation_p.P382A|SLC44A3_uc001dqw.3_Missense_Mutation_p.P370A|SLC44A3_uc010ots.1_Missense_Mutation_p.P338A|SLC44A3_uc009wds.2_Missense_Mutation_p.P321A|SLC44A3_uc010ott.1_Missense_Mutation_p.P338A|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	418						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TAAAAATGATCCTCCTGATCA	0.393												
STXBP3	6814	broad.mit.edu	37	1	109336246	109336246	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:109336246C>T	uc001dvy.2	+	12	1081	c.1006C>T	c.(1006-1008)CAT>TAT	p.H336Y	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	336					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAAGATGCCCCATTTCCGAAA	0.299												
HRNR	388697	broad.mit.edu	37	1	152192292	152192292	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:152192292C>G	uc001ezt.1	-	3	1889	c.1813G>C	c.(1813-1815)GGT>CGT	p.G605R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	605	6.				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)			GAGGAATGACCCGAGCTAGAT	0.557												
CD1C	911	broad.mit.edu	37	1	158261017	158261017	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158261017A>T	uc001fru.2	+	2	447	c.155A>T	c.(154-156)GAG>GTG	p.E52V	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	52	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TGGCTGGACGAGTTGCAGACT	0.502												
OR10K2	391107	broad.mit.edu	37	1	158390365	158390365	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158390365C>A	uc010pii.1	-	1	292	c.292G>T	c.(292-294)GCC>TCC	p.A98S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					ATTTGGATGGCACAGCCCAGG	0.488												
OR6N1	128372	broad.mit.edu	37	1	158736147	158736147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:158736147G>A	uc010piq.1	-	1	326	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCACTCAGTCGCTCCAAGGGA	0.507												
PVRL4	81607	broad.mit.edu	37	1	161049643	161049643	+	Missense_Mutation	SNP	C	C	T	rs142201196		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:161049643C>T	uc001fxo.2	-	2	475	c.176G>A	c.(175-177)GGC>GAC	p.G59D		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	59	Ig-like V-type 1.|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)			CACTTGCTCGCCGGAGTCCCC	0.662												
LRRC52	440699	broad.mit.edu	37	1	165514100	165514100	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:165514100C>T	uc001gde.2	+	1	623	c.567C>T	c.(565-567)AAC>AAT	p.N189N	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	189	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGAAGTGCAACTGCTCTTTCC	0.517												
SCYL3	57147	broad.mit.edu	37	1	169823652	169823652	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:169823652T>G	uc001ggs.2	-	13	2126	c.1928A>C	c.(1927-1929)CAA>CCA	p.Q643P	SCYL3_uc010plw.1_Missense_Mutation_p.Q235P|SCYL3_uc001ggt.2_Missense_Mutation_p.Q589P|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	643	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGCCTTTCTTGTGATGACAC	0.438												
PAPPA2	60676	broad.mit.edu	37	1	176740108	176740108	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:176740108A>G	uc001gkz.2	+	17	5671	c.4507A>G	c.(4507-4509)AGC>GGC	p.S1503G	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1503	Sushi 2.				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						GTCAGGACTGAGCCCATGGCT	0.458												
C1orf14	81626	broad.mit.edu	37	1	182908441	182908441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:182908441C>T	uc001gpu.2	-	5	1231	c.946G>A	c.(946-948)GAG>AAG	p.E316K	C1orf14_uc001gpv.2_Missense_Mutation_p.E197K|C1orf14_uc010pnz.1_Missense_Mutation_p.E174K|C1orf14_uc001gpw.2_Missense_Mutation_p.E36K	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	388	Potential.										0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TCAATGAGCTCGACACGTTTG	0.373												
FAM5C	339479	broad.mit.edu	37	1	190195400	190195400	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:190195400G>T	uc001gse.1	-	6	1005	c.773C>A	c.(772-774)GCA>GAA	p.A258E	FAM5C_uc010pot.1_Missense_Mutation_p.A156E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	258						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GCTCAAAGCTGCTTGTACAAA	0.383												
CUBN	8029	broad.mit.edu	37	10	16911742	16911742	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:16911742T>A	uc001ioo.2	-	59	9399	c.9347A>T	c.(9346-9348)AAG>ATG	p.K3116M	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.K472M	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3116	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)	TGGTGGGCGCTTGGAACCGCA	0.493												
APBB1IP	54518	broad.mit.edu	37	10	26830559	26830559	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:26830559T>C	uc001iss.2	+	11	1414	c.1093T>C	c.(1093-1095)TAC>CAC	p.Y365H	APBB1IP_uc009xks.1_Missense_Mutation_p.Y365H	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	365	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						TGTCAACATTTACTATGGGAC	0.318												
MYPN	84665	broad.mit.edu	37	10	69881710	69881710	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:69881710G>C	uc001jnm.3	+	3	700	c.515G>C	c.(514-516)AGG>ACG	p.R172T	MYPN_uc001jnl.1_Missense_Mutation_p.R172T|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.R172T|MYPN_uc001jnp.1_Missense_Mutation_p.R172T|MYPN_uc009xps.2_Missense_Mutation_p.R172T|MYPN_uc009xpt.2_Missense_Mutation_p.R172T|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	172	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						AGCTCCAAAAGGATTAGACCT	0.403												
KIAA0913	23053	broad.mit.edu	37	10	75548519	75548519	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:75548519G>A	uc009xrl.2	+	2	332	c.300G>A	c.(298-300)GTG>GTA	p.V100V	KIAA0913_uc001jve.2_Silent_p.V100V|KIAA0913_uc001jvf.2_Silent_p.V100V|KIAA0913_uc001jvh.2_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	100							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					ACCCACCAGTGCCTGAGCAGC	0.517												
EIF5AL1	143244	broad.mit.edu	37	10	81272670	81272670	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:81272670T>C	uc009xrx.2	+	1	314	c.265T>C	c.(265-267)TTC>CTC	p.F89L	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	89					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAGGAATGACTTCCAGCTGAT	0.498												
LRIT1	26103	broad.mit.edu	37	10	85994113	85994113	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:85994113G>T	uc001kcz.1	-	3	633	c.611C>A	c.(610-612)GCA>GAA	p.A204E		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	204	LRRCT.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GCAGTCACATGCCCAGGGGTT	0.527												
TNKS2	80351	broad.mit.edu	37	10	93582083	93582083	+	Silent	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:93582083T>G	uc001khp.2	+	7	1056	c.759T>G	c.(757-759)TCT>TCG	p.S253S		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	253	ANK 5.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATGCCTGTTCTTATGGTCATT	0.333												
ZNF518A	9849	broad.mit.edu	37	10	97918525	97918525	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:97918525T>A	uc001klp.2	+	6	3303	c.2446T>A	c.(2446-2448)TCA>ACA	p.S816T	ZNF518A_uc001klo.1_Missense_Mutation_p.S286T|ZNF518A_uc001klq.2_Missense_Mutation_p.S816T|ZNF518A_uc001klr.2_Missense_Mutation_p.S816T	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTGTGACCAGTCATTTCAAAA	0.383												
MRPL43	84545	broad.mit.edu	37	10	102747079	102747079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:102747079C>T	uc001kry.1	-	1	194	c.122G>A	c.(121-123)CGC>CAC	p.R41H	MRPL43_uc010qpu.1_Missense_Mutation_p.R41H|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_Missense_Mutation_p.R41H|MRPL43_uc001ksb.1_Missense_Mutation_p.R41H|MRPL43_uc001ksd.1_Missense_Mutation_p.R41H|MRPL43_uc001ksc.2_Missense_Mutation_p.R41H|MRPL43_uc001kse.2_Missense_Mutation_p.R41H|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksh.2_5'Flank	NM_176792	NP_789762	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform b	41					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CCTGGCGCCGCGAGACGAGGC	0.682												
PNLIPRP1	5407	broad.mit.edu	37	10	118363625	118363625	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:118363625A>T	uc001lco.1	+	11	1165	c.1147A>T	c.(1147-1149)AAC>TAC	p.N383Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.N383Y	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	383	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AAATAAGGGAAACACTCACCA	0.413												
RPLP2	6181	broad.mit.edu	37	11	812594	812594	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:812594G>T	uc001lrq.1	+	4	337	c.232G>T	c.(232-234)GGC>TGC	p.G78C	RPLP2_uc001lrr.1_Missense_Mutation_p.G78C	NM_001004	NP_000995	P05387	RLA2_HUMAN	ribosomal protein P2	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGCCCCAGGCTCTGCAGC	0.637												
OR8H1	219469	broad.mit.edu	37	11	56057747	56057747	+	Silent	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:56057747A>G	uc010rje.1	-	1	792	c.792T>C	c.(790-792)TCT>TCC	p.S264S		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	264	Extracellular (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)					CCAAAGAATAAGACTTTCTTG	0.348												
HTR3B	9177	broad.mit.edu	37	11	113780172	113780172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr11:113780172G>A	uc001pok.2	+	2	275	c.208G>A	c.(208-210)GAT>AAT	p.D70N	HTR3B_uc001pol.2_Missense_Mutation_p.D59N	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	70	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGCTATATTGGATGTGGTAAG	0.433												
BCL2L14	79370	broad.mit.edu	37	12	12247709	12247709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:12247709G>A	uc001rac.2	+	5	991	c.790G>A	c.(790-792)GAG>AAG	p.E264K	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.E264K|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	264					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGGAGAATCAGAGGTCAAAGC	0.537												
GYS2	2998	broad.mit.edu	37	12	21689968	21689968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:21689968G>A	uc001rfb.2	-	16	2287	c.2032C>T	c.(2032-2034)CGG>TGG	p.R678W		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	678					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						ATATTTAACCGATCCCTTTCA	0.463												
RACGAP1	29127	broad.mit.edu	37	12	50384086	50384086	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:50384086G>T	uc001rvt.2	-	19	2174	c.1864C>A	c.(1864-1866)CAA>AAA	p.Q622K	RACGAP1_uc009zlm.1_Missense_Mutation_p.Q622K|RACGAP1_uc001rvs.2_Missense_Mutation_p.Q622K|RACGAP1_uc001rvu.2_Missense_Mutation_p.Q622K	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	622					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AAGTTGCCTTGTCGTCCTAGG	0.383												
CALCOCO1	57658	broad.mit.edu	37	12	54107590	54107590	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:54107590G>A	uc001sef.2	-	13	1830	c.1686C>T	c.(1684-1686)TCC>TCT	p.S562S	CALCOCO1_uc001see.2_Silent_p.S63S|CALCOCO1_uc010som.1_Silent_p.S477S|CALCOCO1_uc010son.1_Silent_p.S439S|CALCOCO1_uc001seh.2_Silent_p.S562S|CALCOCO1_uc009znd.2_Silent_p.S562S|CALCOCO1_uc001seg.2_Silent_p.S387S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	562	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CAGCAGGAGAGGAGCCTGGGT	0.617												
IKZF4	64375	broad.mit.edu	37	12	56428613	56428613	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:56428613G>A	uc001sjb.1	+	9	1415	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	IKZF4_uc010sqa.1_Missense_Mutation_p.R372Q|IKZF4_uc001sjc.1_Missense_Mutation_p.R419Q|IKZF4_uc001sjd.1_Missense_Mutation_p.R317Q|IKZF4_uc009zoi.1_Missense_Mutation_p.R374Q|IKZF4_uc001sje.1_Missense_Mutation_p.R378Q	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	419					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCAGGATCCCGAGAAGCAGGT	0.632												
DRAM1	55332	broad.mit.edu	37	12	102295137	102295137	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:102295137C>T	uc001tix.2	+	3	731	c.268C>T	c.(268-270)CCT>TCT	p.P90S	DRAM1_uc010svv.1_Missense_Mutation_p.P90S	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	90					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TTTCAGCACTCCTGTTTTTAA	0.383												
PXN	5829	broad.mit.edu	37	12	120660701	120660701	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr12:120660701T>A	uc001txt.2	-	4	589	c.458A>T	c.(457-459)AAC>ATC	p.N153I	PXN_uc001txv.2_Missense_Mutation_p.N20I|PXN_uc001txx.2_Missense_Mutation_p.N20I|PXN_uc001txy.2_Missense_Mutation_p.N153I|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	153	LD motif 2.				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)					CTGTACAGCGTTCAGTTCCAG	0.607												
MTUS2	23281	broad.mit.edu	37	13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:29933476C>T	uc001usl.3	+	6	3071	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	995	Localization to the growing distal tip of microtubules.|Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TGAGGCTGAGCGGCAGCTGGT	0.627												
SOHLH2	54937	broad.mit.edu	37	13	36748935	36748935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:36748935G>A	uc001uvj.2	-	7	802	c.713C>T	c.(712-714)GCG>GTG	p.A238V	SOHLH2_uc010tei.1_Missense_Mutation_p.A315V	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	238	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AACTGAAGCCGCATCATTCTT	0.423												
NALCN	259232	broad.mit.edu	37	13	101742013	101742013	+	Splice_Site	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:101742013C>A	uc001vox.1	-	30	3678	c.3489_splice	c.e30+1	p.K1163_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAATCCTTACCTTGTTTTCA	0.393												
CARS2	79587	broad.mit.edu	37	13	111329399	111329399	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr13:111329399T>A	uc001vrd.2	-	7	747	c.707A>T	c.(706-708)AAA>ATA	p.K236I	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	236					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CTCCTGGGGTTTGGCCGCCTT	0.627												
SIPA1L1	26037	broad.mit.edu	37	14	72054702	72054702	+	Missense_Mutation	SNP	G	G	A	rs146483394		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:72054702G>A	uc001xms.2	+	2	461	c.113G>A	c.(112-114)CGC>CAC	p.R38H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R38H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R38H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R38H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	38					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TACATGCGGCGCTTCCGGTCC	0.547												
FLRT2	23768	broad.mit.edu	37	14	86089570	86089570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:86089570G>A	uc001xvr.2	+	2	2479	c.1712G>A	c.(1711-1713)CGC>CAC	p.R571H	FLRT2_uc010atd.2_Missense_Mutation_p.R571H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	571	Cytoplasmic (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)		AAAAAGGGGCGCTACACCTCC	0.562												
SERPINA10	51156	broad.mit.edu	37	14	94756415	94756415	+	Silent	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:94756415A>G	uc001yct.2	-	2	982	c.516T>C	c.(514-516)TTT>TTC	p.F172F	SERPINA10_uc001ycu.3_Silent_p.F172F	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	172					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTTGACATCAAAATCCTTGT	0.483												
CRIP2	1397	broad.mit.edu	37	14	105945789	105945789	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr14:105945789A>G	uc001yrd.1	+	7	587	c.518A>G	c.(517-519)TAC>TGC	p.Y173C	CRIP2_uc010tyr.1_Missense_Mutation_p.Y247C|CRIP2_uc001yre.1_Missense_Mutation_p.Y245C|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	173	LIM zinc-binding 2.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GGCCAGCCCTACTGCCACAAG	0.637												
C15orf2	23742	broad.mit.edu	37	15	24922516	24922516	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:24922516C>G	uc001ywo.2	+	1	1976	c.1502C>G	c.(1501-1503)CCT>CGT	p.P501R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	501	Pro-rich.				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)		CCAACACCTCCTAGCTCCACA	0.517												
LTK	4058	broad.mit.edu	37	15	41805064	41805064	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:41805064G>T	uc001zoa.3	-	3	378	c.200C>A	c.(199-201)TCT>TAT	p.S67Y	LTK_uc001zob.3_Missense_Mutation_p.S67Y|LTK_uc010ucx.1_Missense_Mutation_p.S67Y|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	67	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAACAGCCAAGACCCCTCGGT	0.672										TSP Lung(18;0.14)		
SLC12A1	6557	broad.mit.edu	37	15	48521412	48521412	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:48521412A>C	uc001zwn.3	+	6	967	c.751A>C	c.(751-753)AGT>CGT	p.S251R	SLC12A1_uc010uew.1_Missense_Mutation_p.S57R|SLC12A1_uc010bem.2_Missense_Mutation_p.S251R|SLC12A1_uc010uex.1_Missense_Mutation_p.S251R|SLC12A1_uc001zwq.3_Missense_Mutation_p.S22R|SLC12A1_uc001zwr.3_5'UTR	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	251	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATTTCCAGAAGTTTAGGGCC	0.428												
FBN1	2200	broad.mit.edu	37	15	48766498	48766498	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr15:48766498G>A	uc001zwx.1	-	34	4492	c.4164C>T	c.(4162-4164)CGC>CGT	p.R1388R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1388	EGF-like 23; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCACAGACAGCGGTAAGATC	0.448												
PDXDC1	23042	broad.mit.edu	37	16	15122811	15122811	+	Silent	SNP	G	G	A	rs150807075	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:15122811G>A	uc002dda.3	+	15	1505	c.1281G>A	c.(1279-1281)GCG>GCA	p.A427A	PDXDC1_uc010uzl.1_Silent_p.A412A|PDXDC1_uc010uzm.1_Silent_p.A336A|PDXDC1_uc002dcz.2_Silent_p.A404A|PDXDC1_uc002ddb.3_Silent_p.A400A|PDXDC1_uc010uzn.1_Silent_p.A399A|PDXDC1_uc002ddc.2_Silent_p.A427A	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	427					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CGTGTGACGCGCTGAATCGCT	0.587												
DPEP1	1800	broad.mit.edu	37	16	89702385	89702385	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:89702385G>A	uc010cin.2	+	3	377	c.174G>A	c.(172-174)CTG>CTA	p.L58L	DPEP1_uc002fnr.3_Silent_p.L58L|DPEP1_uc002fns.3_Silent_p.L58L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	58					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)	GGGCCAACCTGACCACCTTGG	0.642												
TUBB3	10381	broad.mit.edu	37	16	89986303	89986303	+	Missense_Mutation	SNP	C	C	T	rs144239448	by1000genomes	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr16:89986303C>T	uc002fpf.2	+	1	1045	c.637C>T	c.(637-639)CGG>TGG	p.R213W	MC1R_uc002fpe.3_Missense_Mutation_p.R213W|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R213C(1)		ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CATGCTGGCCCGGGCCTGCCA	0.657												
ZZEF1	23140	broad.mit.edu	37	17	3921227	3921227	+	Missense_Mutation	SNP	C	C	T	rs139593441		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:3921227C>T	uc002fxe.2	-	47	7608	c.7544G>A	c.(7543-7545)CGG>CAG	p.R2515Q	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2515							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCAGGGACCGTATCCTTTC	0.517												
RABEP1	9135	broad.mit.edu	37	17	5264577	5264577	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:5264577C>T	uc002gbm.3	+	9	1394	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	RABEP1_uc010clc.1_Silent_p.F383F|RABEP1_uc010cld.1_Silent_p.F347F|RABEP1_uc010vsw.1_Silent_p.F347F|RABEP1_uc002gbl.3_Silent_p.F390F|NUP88_uc002gbn.2_RNA	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	390					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GAGATCCTTTCAGTAAATCGG	0.463												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)		
KCNAB3	9196	broad.mit.edu	37	17	7829022	7829022	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:7829022T>C	uc002gjm.1	-	7	517	c.517A>G	c.(517-519)AGC>GGC	p.S173G	KCNAB3_uc010vul.1_RNA	NM_004732	NP_004723	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related	173						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(1)	1		Prostate(122;0.157)				TGCTTTCGGCTTAAACCTCGC	0.502												
DNAH9	1770	broad.mit.edu	37	17	11554622	11554622	+	Silent	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:11554622T>G	uc002gne.2	+	13	2402	c.2334T>G	c.(2332-2334)ACT>ACG	p.T778T	DNAH9_uc010coo.2_Silent_p.T72T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	778	Stem (By similarity).|Potential.				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)		CAGAGGAGACTTTGAACTGGA	0.428												
CCL8	6355	broad.mit.edu	37	17	32647376	32647376	+	Silent	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:32647376C>A	uc002hib.2	+	2	620	c.165C>A	c.(163-165)ACC>ACA	p.T55T		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	55					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				CAAGAATCACCAACATCCAAT	0.433												
CDC6	990	broad.mit.edu	37	17	38447729	38447729	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38447729T>A	uc002huj.1	+	4	679	c.469T>A	c.(469-471)TAC>AAC	p.Y157N		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	157					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						AGGCACTTGCTACCAGCAAGC	0.493												
KRT25	147183	broad.mit.edu	37	17	38907471	38907471	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38907471G>A	uc002hve.2	-	4	838	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	259	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CAAGGGCTTCGTACTCAGCTC	0.572												
KRT26	353288	broad.mit.edu	37	17	38927474	38927474	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:38927474G>A	uc002hvf.2	-	2	502	c.456C>T	c.(454-456)ACC>ACT	p.T152T		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	152	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CATTGCAGATGGTCGCAGAAA	0.358												
MLX	6945	broad.mit.edu	37	17	40721585	40721585	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:40721585C>T	uc002iag.2	+	6	664	c.599C>T	c.(598-600)ACG>ATG	p.T200M	MLX_uc002iaf.2_Missense_Mutation_p.T146M|MLX_uc002iah.2_Missense_Mutation_p.T116M	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	200					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)		GAGGTGTCCACGTTACGCAAG	0.488												
DSG4	147409	broad.mit.edu	37	18	28980860	28980860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr18:28980860G>A	uc002kwq.2	+	10	1429	c.1294G>A	c.(1294-1296)GAT>AAT	p.D432N	DSG4_uc002kwr.2_Missense_Mutation_p.D432N	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	432	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATAGGGCATGATGCAGGCAG	0.299												
LINGO3	645191	broad.mit.edu	37	19	2290977	2290977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:2290977G>A	uc010dsx.1	-	2	927	c.799C>T	c.(799-801)CGG>TGG	p.R267W	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	267	Extracellular (Potential).|LRR 8.					integral to membrane					0						GCCTGGTGCCGCAGCGCGGCG	0.721												
ACTL9	284382	broad.mit.edu	37	19	8808335	8808335	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:8808335G>A	uc002mkl.2	-	1	838	c.717C>T	c.(715-717)GCC>GCT	p.A239A		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GGGGCAGGCCGGCCTGGAGCA	0.657												
MUC16	94025	broad.mit.edu	37	19	9059771	9059771	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:9059771C>A	uc002mkp.2	-	3	27879	c.27675G>T	c.(27673-27675)ATG>ATT	p.M9225I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9227	Ser-rich.|Thr-rich.|Extracellular (Potential).				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						CCACATTGGTCATCTCCAGTT	0.468												
CCDC151	115948	broad.mit.edu	37	19	11531515	11531515	+	Silent	SNP	A	A	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:11531515A>C	uc002mrs.2	-	13	1919	c.1776T>G	c.(1774-1776)TCT>TCG	p.S592S	CCDC151_uc002mrr.2_Silent_p.S527S|CCDC151_uc010dxz.2_Silent_p.S532S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	592										ovary(1)	1						AGGACCTCCGAGAGCGACGGT	0.627												
CHERP	10523	broad.mit.edu	37	19	16641681	16641681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:16641681G>A	uc002nei.1	-	6	759	c.685C>T	c.(685-687)CAG>TAG	p.Q229*	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	229	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TCCCGGGCCTGCTTGCGCTGG	0.692												
NWD1	284434	broad.mit.edu	37	19	16884108	16884108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:16884108G>A	uc002neu.3	+	11	3004	c.2582G>A	c.(2581-2583)CGG>CAG	p.R861Q	NWD1_uc002net.3_Missense_Mutation_p.R726Q|NWD1_uc002nev.3_Missense_Mutation_p.R655Q			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	861							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						GGACCCCTCCGGGCAACTCTC	0.627												
FBXO46	23403	broad.mit.edu	37	19	46215503	46215503	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:46215503G>A	uc002pcy.2	-	2	1376	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	FBXO46_uc002pcz.2_Silent_p.D417D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	417							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCGGGGGCCCGTCCGGCCCGC	0.726												
CCDC114	93233	broad.mit.edu	37	19	48806095	48806095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:48806095G>A	uc002pir.2	-	10	1668	c.985C>T	c.(985-987)CGT>TGT	p.R329C	CCDC114_uc002piq.2_Missense_Mutation_p.R138C|CCDC114_uc002pio.2_Missense_Mutation_p.R366C|CCDC114_uc002pis.1_Missense_Mutation_p.R9C|CCDC114_uc002pit.1_Missense_Mutation_p.R366C	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	329	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TTGCTGGCACGTGCGCTCACC	0.607												
KLK8	11202	broad.mit.edu	37	19	51501058	51501058	+	Silent	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr19:51501058G>T	uc002pur.1	-	5	755	c.576C>A	c.(574-576)ATC>ATA	p.I192I	KLK8_uc002puq.1_Silent_p.I237I|KLK8_uc002pus.1_Silent_p.I51I|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.I192I|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	192	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGCCATCTGTGATCTGCCCCG	0.512												
NBAS	51594	broad.mit.edu	37	2	15542374	15542374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:15542374C>T	uc002rcc.1	-	26	3015	c.2989G>A	c.(2989-2991)GAG>AAG	p.E997K	NBAS_uc010exl.1_Missense_Mutation_p.E69K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	997										ovary(2)|liver(1)|skin(1)	4						TAGATGCACTCTAGTGCTATT	0.373												
GDF7	151449	broad.mit.edu	37	2	20871023	20871023	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:20871023C>T	uc002rdz.1	+	2	1767	c.1191C>T	c.(1189-1191)ATC>ATT	p.I397I		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	397					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCATGCCATCATTCAGACGC	0.642												
ITSN2	50618	broad.mit.edu	37	2	24480916	24480916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:24480916G>A	uc002rfe.2	-	23	2987	c.2729C>T	c.(2728-2730)ACT>ATT	p.T910I	ITSN2_uc002rff.2_Missense_Mutation_p.T883I|ITSN2_uc002rfg.2_Missense_Mutation_p.T910I|ITSN2_uc002rfh.1_RNA	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	910	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTTTGCAGTCCAGGAACA	0.388												
FAM179A	165186	broad.mit.edu	37	2	29246051	29246051	+	Silent	SNP	T	T	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:29246051T>C	uc010ezl.2	+	12	1962	c.1611T>C	c.(1609-1611)ACT>ACC	p.T537T	FAM179A_uc010ymm.1_Silent_p.T482T|FAM179A_uc002rmr.3_Silent_p.T64T	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	537							binding			ovary(3)|skin(1)	4						TGGTGGTGACTGGGGAGGTGA	0.637												
FAM161A	84140	broad.mit.edu	37	2	62066655	62066655	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:62066655C>T	uc010ypo.1	-	3	1586	c.1484G>A	c.(1483-1485)CGT>CAT	p.R495H	FAM161A_uc002sbm.3_Missense_Mutation_p.R495H|FAM161A_uc002sbn.3_Missense_Mutation_p.R305H|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.R386H	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	495					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TGGTGACTTACGCCTTGGAGA	0.448												
C2orf68	388969	broad.mit.edu	37	2	85836595	85836595	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:85836595G>C	uc002sqc.2	-	3	413	c.341C>G	c.(340-342)GCA>GGA	p.A114G	USP39_uc002sqb.2_Intron|USP39_uc010ysu.1_5'Flank|USP39_uc010ysv.1_5'Flank	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	114										central_nervous_system(1)	1						TCCACTGTCTGCCTCGTATTC	0.532												
CD8B	926	broad.mit.edu	37	2	87085225	87085225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:87085225C>T	uc002srz.2	-	2	408	c.358G>A	c.(358-360)GGG>AGG	p.G120R	RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.G120R|CD8B_uc002srx.2_Missense_Mutation_p.G120R|CD8B_uc002sry.2_Missense_Mutation_p.G120R|CD8B_uc010fgt.2_Missense_Mutation_p.G120R|CD8B_uc002ssa.2_Missense_Mutation_p.G120R|CD8B_uc010yto.1_Missense_Mutation_p.G120R	NM_004931	NP_004922	P10966	CD8B_HUMAN	CD8b antigen isoform 5 precursor	120	Ig-like V-type.|Extracellular (Potential).				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			upper_aerodigestive_tract(1)|skin(1)	2						TCGGGGCTCCCGACGATCATG	0.458												
MITD1	129531	broad.mit.edu	37	2	99797402	99797402	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:99797402C>A	uc002szs.1	-	1	91	c.43G>T	c.(43-45)GCA>TCA	p.A15S	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	15	MIT.				protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2						ACAGTGGCTGCAGCTGTGCTC	0.587												
BUB1	699	broad.mit.edu	37	2	111415164	111415164	+	Silent	SNP	A	A	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:111415164A>T	uc002tgc.2	-	14	1687	c.1575T>A	c.(1573-1575)TCT>TCA	p.S525S	BUB1_uc010yxh.1_Silent_p.S505S|BUB1_uc010fkb.2_Silent_p.S525S	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	525					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATGAAAAGCAGATGACAAAG	0.373												
LRP1B	53353	broad.mit.edu	37	2	141004675	141004675	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:141004675T>G	uc002tvj.1	-	87	14276	c.13304A>C	c.(13303-13305)AAG>ACG	p.K4435T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4435	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATGATCAGACTTGCTGCTCTT	0.378										TSP Lung(27;0.18)		
ANKRD44	91526	broad.mit.edu	37	2	197865188	197865188	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:197865188C>A	uc002uua.1	-	23	2476	c.2399G>T	c.(2398-2400)GGG>GTG	p.G800V	ANKRD44_uc002utz.3_Missense_Mutation_p.G532V	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	825	ANK 24.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTATGGCCCCAAGCAGCAA	0.363												
ALS2CR12	130540	broad.mit.edu	37	2	202216070	202216070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:202216070G>A	uc010ftg.2	-	2	502	c.58C>T	c.(58-60)CGG>TGG	p.R20W	ALS2CR12_uc002uya.3_Missense_Mutation_p.R20W|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	20					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						ATTAGCTTCCGTGGTCCCAAG	0.557												
VWC2L	402117	broad.mit.edu	37	2	215279303	215279303	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:215279303T>A	uc002vet.2	+	2	516	c.386T>A	c.(385-387)TTT>TAT	p.F129Y	VWC2L_uc010zjl.1_Missense_Mutation_p.F129Y	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	129	VWFC 2.					extracellular region					0						TTGGAGGAATTTAAGGTATGC	0.343												
ASB1	51665	broad.mit.edu	37	2	239353036	239353036	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:239353036G>T	uc002vyg.2	+	4	634	c.548G>T	c.(547-549)CGA>CTA	p.R183L		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	183					intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTCCAGCCTCGATTCTCCCGG	0.612												
C20orf26	26074	broad.mit.edu	37	20	20243713	20243713	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:20243713C>T	uc002wru.2	+	21	2518	c.2442C>T	c.(2440-2442)AAC>AAT	p.N814N	C20orf26_uc010zse.1_Silent_p.N794N|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.N170N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	814										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TCACTCTCAACGAGGAAGAGG	0.478												
TSHZ2	128553	broad.mit.edu	37	20	51870644	51870644	+	Missense_Mutation	SNP	G	G	A	rs145172538	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:51870644G>A	uc002xwo.2	+	2	1603	c.647G>A	c.(646-648)CGA>CAA	p.R216Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	216	C2H2-type 1.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGCAGATTCCGATGCCGACAG	0.562												
DIDO1	11083	broad.mit.edu	37	20	61512623	61512623	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr20:61512623T>A	uc002ydr.1	-	16	4949	c.4685A>T	c.(4684-4686)CAG>CTG	p.Q1562L	DIDO1_uc002yds.1_Missense_Mutation_p.Q1562L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1562					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCGCCTCGCCTGCCGGGGGTC	0.692												
DGCR14	8220	broad.mit.edu	37	22	19130142	19130142	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:19130142C>T	uc002zou.2	-	3	346	c.309G>A	c.(307-309)GTG>GTA	p.V103V	DGCR14_uc002zot.2_Silent_p.V24V|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	103					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					TGGCTGGAGTCACATCTAGGG	0.602												
MYO18B	84700	broad.mit.edu	37	22	26422846	26422846	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:26422846G>A	uc003abz.1	+	43	7156	c.6906G>A	c.(6904-6906)TCG>TCA	p.S2302S	MYO18B_uc003aca.1_Silent_p.S2183S|MYO18B_uc010guy.1_Silent_p.S2184S|MYO18B_uc010guz.1_Silent_p.S2182S|MYO18B_uc011aka.1_Silent_p.S1456S|MYO18B_uc011akb.1_Silent_p.S1815S|MYO18B_uc010gva.1_Silent_p.S285S|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2302						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GAAACCTCTCGCTGAGGGTTG	0.617												
DMC1	11144	broad.mit.edu	37	22	38962648	38962648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr22:38962648C>T	uc003avz.1	-	4	365	c.190G>A	c.(190-192)GGA>AGA	p.G64R	DMC1_uc011anv.1_Missense_Mutation_p.G64R|DMC1_uc003awa.1_Missense_Mutation_p.G64R	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	64					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TCTGAGAGTCCTTTGACATTG	0.398								Homologous_recombination				
TLR9	54106	broad.mit.edu	37	3	52255548	52255548	+	Silent	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:52255548A>G	uc003dda.1	-	2	3418	c.2784T>C	c.(2782-2784)TAT>TAC	p.Y928Y	TLR9_uc003ddb.2_Silent_p.Y1025Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	928	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGCGGCTGCCATAGACCGAGG	0.667												
ROBO2	6092	broad.mit.edu	37	3	77666773	77666773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:77666773C>T	uc003dpy.3	+	22	4046	c.3403C>T	c.(3403-3405)CGA>TGA	p.R1135*	ROBO2_uc003dpz.2_Nonsense_Mutation_p.R1139*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.R1139*|ROBO2_uc003dqa.2_Nonsense_Mutation_p.R262*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1135	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTCCTGTTCGAGGCGTGGC	0.517												
SEMA5B	54437	broad.mit.edu	37	3	122630793	122630793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:122630793C>T	uc003efz.1	-	20	3324	c.3020G>A	c.(3019-3021)CGC>CAC	p.R1007H	SEMA5B_uc011bju.1_Missense_Mutation_p.R913H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R1007H|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1007	Extracellular (Potential).|TSP type-1 5.				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)		GGGGCAGGGGCGGCTCTGGCT	0.642												
GYG1	2992	broad.mit.edu	37	3	148742051	148742051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:148742051G>A	uc003ewn.2	+	6	873	c.820G>A	c.(820-822)GTA>ATA	p.V274I	GYG1_uc011bnp.1_3'UTR|GYG1_uc003ewo.2_Missense_Mutation_p.V274I|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	274					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGCTCATATGTAAATGTGGT	0.363												
TNIK	23043	broad.mit.edu	37	3	170805248	170805248	+	Silent	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr3:170805248A>G	uc003fhh.2	-	24	3114	c.2769T>C	c.(2767-2769)TTT>TTC	p.F923F	TNIK_uc003fhi.2_Silent_p.F868F|TNIK_uc003fhj.2_Silent_p.F894F|TNIK_uc003fhk.2_Silent_p.F915F|TNIK_uc003fhl.2_Silent_p.F839F|TNIK_uc003fhm.2_Silent_p.F860F|TNIK_uc003fhn.2_Silent_p.F886F|TNIK_uc003fho.2_Silent_p.F831F|TNIK_uc003fhg.2_Silent_p.F101F	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	923	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)			TGTGGCCAGCAAAGCCATTGC	0.597												
SHISA3	152573	broad.mit.edu	37	4	42403249	42403249	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:42403249G>A	uc003gwp.2	+	2	716	c.498G>A	c.(496-498)ACG>ACA	p.T166T		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	166	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						GCACAGCCACGAGCTCCAGCT	0.672												
KCTD8	386617	broad.mit.edu	37	4	44449773	44449773	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:44449773G>A	uc003gwu.2	-	1	1052	c.768C>T	c.(766-768)CGC>CGT	p.R256R		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	256						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GGTCGGGGTCGCGGCTCTCGT	0.652										HNSCC(17;0.042)		
CWH43	80157	broad.mit.edu	37	4	48993570	48993570	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:48993570G>T	uc003gyv.2	+	3	517	c.335G>T	c.(334-336)TGG>TTG	p.W112L	CWH43_uc011bzl.1_Missense_Mutation_p.W85L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	112	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						GTGACTTGGTGGTCAGGAAGT	0.473												
DCUN1D4	23142	broad.mit.edu	37	4	52779533	52779533	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:52779533C>T	uc003gze.2	+	10	931	c.798C>T	c.(796-798)CTC>CTT	p.L266L	DCUN1D4_uc003gzf.2_Silent_p.L231L|DCUN1D4_uc011bzn.1_Silent_p.L206L|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Silent_p.L310L	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	266	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTTGACCTCAGCAACTATG	0.388												
EPHA5	2044	broad.mit.edu	37	4	66356300	66356300	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:66356300G>A	uc003hcy.2	-	5	1390	c.1197C>T	c.(1195-1197)AAC>AAT	p.N399N	EPHA5_uc003hcx.2_Silent_p.N330N|EPHA5_uc003hcz.2_Silent_p.N399N|EPHA5_uc011cah.1_Silent_p.N399N|EPHA5_uc011cai.1_Silent_p.N399N|EPHA5_uc003hda.2_Silent_p.N399N	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	399	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTGCATGGGAGTTGCACTTCT	0.488										TSP Lung(17;0.13)		
ANK2	287	broad.mit.edu	37	4	114204000	114204000	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:114204000A>G	uc003ibe.3	+	18	2151	c.2051A>G	c.(2050-2052)AAG>AGG	p.K684R	ANK2_uc003ibd.3_Missense_Mutation_p.K663R|ANK2_uc003ibf.3_Missense_Mutation_p.K684R|ANK2_uc003ibc.2_Missense_Mutation_p.K660R|ANK2_uc011cgb.1_Missense_Mutation_p.K699R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	684	ANK 20.				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)		CTTCTGGATAAGGGAGCCAAT	0.453												
NPY2R	4887	broad.mit.edu	37	4	156135406	156135406	+	Silent	SNP	G	G	A	rs148709959	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:156135406G>A	uc003ioq.2	+	2	810	c.315G>A	c.(313-315)CCG>CCA	p.P105P	NPY2R_uc003ior.2_Silent_p.P105P	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105	Helical; Name=2; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTGTCTACCGTTCACTCTTA	0.493												
PDGFC	56034	broad.mit.edu	37	4	157771437	157771437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:157771437C>T	uc003iph.1	-	2	741	c.250G>A	c.(250-252)GTA>ATA	p.V84I	PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	84	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGTATCCATACATTTTCCTCT	0.378												
SC4MOL	6307	broad.mit.edu	37	4	166258981	166258981	+	Missense_Mutation	SNP	A	A	G	rs141811636	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:166258981A>G	uc003ire.2	+	3	426	c.296A>G	c.(295-297)AAA>AGA	p.K99R	SC4MOL_uc010irb.2_Missense_Mutation_p.K99R|SC4MOL_uc003irf.2_5'UTR	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	99					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	AAGTGTTTCAAAGTTCTTCTC	0.343												
GPM6A	2823	broad.mit.edu	37	4	176622915	176622915	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr4:176622915C>A	uc003iuf.2	-	2	845	c.41G>T	c.(40-42)TGT>TTT	p.C14F	GPM6A_uc011ckj.1_Missense_Mutation_p.C7F|GPM6A_uc003iug.2_Missense_Mutation_p.C14F|GPM6A_uc003iuh.2_Missense_Mutation_p.C3F	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	14	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCATTCAAAACACCCTGTAGA	0.423												
ADAMTS16	170690	broad.mit.edu	37	5	5186212	5186212	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:5186212T>A	uc003jdl.2	+	5	949	c.811T>A	c.(811-813)TAT>AAT	p.Y271N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y271N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.Y271N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	271					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GCCAGATGAGTATAAGTCTTG	0.483												
SPEF2	79925	broad.mit.edu	37	5	35667221	35667221	+	Silent	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:35667221A>G	uc003jjo.2	+	9	1326	c.1215A>G	c.(1213-1215)AAA>AAG	p.K405K	SPEF2_uc003jjn.1_Silent_p.K405K|SPEF2_uc003jjq.3_Silent_p.K405K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	405					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)			AATTCCTTAAAGAAAAGAGAT	0.303												
GDNF	2668	broad.mit.edu	37	5	37834836	37834836	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:37834836C>T	uc011cpi.1	-	2	263	c.63G>A	c.(61-63)CCG>CCA	p.P21P	GDNF_uc011cpc.1_Missense_Mutation_p.A19T|GDNF_uc011cpd.1_5'UTR|GDNF_uc011cpe.1_Silent_p.P21P|GDNF_uc011cpf.1_Silent_p.P21P|GDNF_uc011cpg.1_Silent_p.P38P|GDNF_uc011cph.1_Silent_p.P38P	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	21			P -> S (in HSCR3; could be a polymorphism).		adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					CGGCGGGCAGCGGGAAGGCGG	0.697												
EGFLAM	133584	broad.mit.edu	37	5	38258870	38258870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:38258870G>A	uc003jlc.1	+	1	338	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.R5Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	5						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GATTTAATCCGAGGCGTCTTG	0.682												
SKIV2L2	23517	broad.mit.edu	37	5	54649063	54649063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:54649063A>G	uc003jpy.3	+	14	1765	c.1499A>G	c.(1498-1500)AAT>AGT	p.N500S	SKIV2L2_uc011cqi.1_Missense_Mutation_p.N399S	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	500	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTATTTACAAATGCCCGCAAA	0.328												
APBB3	10307	broad.mit.edu	37	5	139940666	139940666	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:139940666T>G	uc003lgd.1	-	9	1227	c.868A>C	c.(868-870)AGC>CGC	p.S290R	SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.S62R|APBB3_uc003lgc.1_Missense_Mutation_p.S62R|APBB3_uc003lge.1_Missense_Mutation_p.S283R|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.S62R|APBB3_uc010jfq.1_Missense_Mutation_p.S62R	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	285	PID 2.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGGCTTACCGCATCC	0.552												
TRIM7	81786	broad.mit.edu	37	5	180622459	180622459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr5:180622459G>A	uc003mmz.1	-	7	1310	c.1243C>T	c.(1243-1245)CGC>TGC	p.R415C	TRIM7_uc003mmv.1_Missense_Mutation_p.R233C|TRIM7_uc003mmw.1_Missense_Mutation_p.R207C|TRIM7_uc003mmx.1_Missense_Mutation_p.R207C|TRIM7_uc003mmy.1_Missense_Mutation_p.R207C	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	415	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACGCTCTCGCGGGCCACGCCA	0.711												
TDRD6	221400	broad.mit.edu	37	6	46657611	46657611	+	Silent	SNP	C	C	T	rs143534526		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:46657611C>T	uc003oyj.2	+	1	1746	c.1746C>T	c.(1744-1746)GAC>GAT	p.D582D	TDRD6_uc010jze.2_Silent_p.D576D	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	582	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTGGTATGACGTAAGGATGC	0.453												
SIM1	6492	broad.mit.edu	37	6	100897520	100897520	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:100897520T>A	uc003pqj.3	-	4	611	c.404A>T	c.(403-405)GAG>GTG	p.E135V	SIM1_uc010kcu.2_Missense_Mutation_p.E135V	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	135	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGCCGTCATCTCGTCGTGGTC	0.592												
RNF217	154214	broad.mit.edu	37	6	125402621	125402621	+	Missense_Mutation	SNP	G	G	A	rs137981529		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:125402621G>A	uc003pzs.2	+	7	985	c.647G>A	c.(646-648)GGA>GAA	p.G216E	RNF217_uc003pzr.2_Missense_Mutation_p.G273E|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	216	Helical; (Potential).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGGTTTTGGGATTGGCACTA	0.363												
ENPP1	5167	broad.mit.edu	37	6	132194115	132194115	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:132194115A>C	uc011ecf.1	+	15	1510	c.1490A>C	c.(1489-1491)AAG>ACG	p.K497T	ENPP1_uc003qcy.2_Missense_Mutation_p.K127T	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	497	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTTACCTAAGCGTTTGCAC	0.403												
SGK1	6446	broad.mit.edu	37	6	134494621	134494621	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:134494621G>A	uc003qen.3	-	4	401	c.312C>T	c.(310-312)ATC>ATT	p.I104I	SGK1_uc003qeo.3_Silent_p.I199I|SGK1_uc011ect.1_Silent_p.I94I|SGK1_uc011ecu.1_Silent_p.I104I|SGK1_uc011ecv.1_Silent_p.I118I|SGK1_uc011ecw.1_Silent_p.I132I	NM_005627	NP_005618	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	104	ATP (By similarity).|Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCCCTTTCCGATCACTTTCA	0.393												
SDK1	221935	broad.mit.edu	37	7	4002413	4002413	+	Silent	SNP	C	C	T	rs141891693	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:4002413C>T	uc003smx.2	+	9	1498	c.1359C>T	c.(1357-1359)TCC>TCT	p.S453S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	453	Ig-like C2-type 4.				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)		CAGAGGACTCCGGAATCTTCC	0.577												
TRIL	9865	broad.mit.edu	37	7	28996249	28996249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:28996249C>T	uc003szt.2	-	3	1781	c.1414G>A	c.(1414-1416)GCC>ACC	p.A472T	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	472	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						AGCTCCCTGGCGGCCCCATCC	0.751												
CCDC129	223075	broad.mit.edu	37	7	31690769	31690769	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:31690769A>T	uc003tcj.1	+	12	3590	c.2597A>T	c.(2596-2598)GAG>GTG	p.E866V	CCDC129_uc011kad.1_Missense_Mutation_p.E876V|CCDC129_uc003tci.1_Missense_Mutation_p.E717V|CCDC129_uc011kae.1_Missense_Mutation_p.E892V|CCDC129_uc003tck.1_Missense_Mutation_p.E774V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	866											0						ACAGTCCATGAGATGGAAGCC	0.478												
BMPER	168667	broad.mit.edu	37	7	34118544	34118544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:34118544C>T	uc011kap.1	+	12	1268	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	385	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						TTTCAGGGGACGTGTCAGTAC	0.572												
STARD3NL	83930	broad.mit.edu	37	7	38247172	38247172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:38247172C>T	uc003tfr.2	+	2	215	c.67C>T	c.(67-69)CGC>TGC	p.R23C	STARD3NL_uc003tfs.2_Missense_Mutation_p.R23C|STARD3NL_uc003tft.2_Missense_Mutation_p.R23C	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	23	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						TGCTTCTCTGCGCAATATCCA	0.517												
ACHE	43	broad.mit.edu	37	7	100490818	100490818	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:100490818G>T	uc003uxd.2	-	1	1192	c.1036C>A	c.(1036-1038)CTC>ATC	p.L346I	ACHE_uc003uxe.2_Missense_Mutation_p.L346I|ACHE_uc003uxf.2_Missense_Mutation_p.L346I|ACHE_uc003uxg.2_Missense_Mutation_p.L346I|ACHE_uc003uxh.2_Missense_Mutation_p.L346I|ACHE_uc003uxi.2_Missense_Mutation_p.L346I|ACHE_uc003uxj.1_Missense_Mutation_p.L465I	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	346					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCGTTGATGAGGGCCTCTGGG	0.612												
MUC17	140453	broad.mit.edu	37	7	100677488	100677488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:100677488G>A	uc003uxp.1	+	3	2844	c.2791G>A	c.(2791-2793)GAC>AAC	p.D931N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	931	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTATGCCTGACAGCACCAC	0.507												
PSMC2	5701	broad.mit.edu	37	7	102994396	102994396	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:102994396G>C	uc003vbs.2	+	2	169	c.99G>C	c.(97-99)TTG>TTC	p.L33F	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.L33F|PSMC2_uc011klo.1_5'UTR	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	33					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|interspecies interaction between organisms|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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TTGCCTTGTTGAAAACTTATG	0.303												
ZNF777	27153	broad.mit.edu	37	7	149129715	149129715	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr7:149129715C>T	uc003wfv.2	-	6	1811	c.1648G>A	c.(1648-1650)GAG>AAG	p.E550K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	550	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTGCCGCACTCCATGCATGTG	0.662												
HR	55806	broad.mit.edu	37	8	21983209	21983209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:21983209C>T	uc003xas.2	-	4	2107	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	HR_uc003xat.2_Missense_Mutation_p.G481E	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	481							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTCCTGAAGTCCCGGGTCCTG	0.597												
PREX2	80243	broad.mit.edu	37	8	68939478	68939478	+	Missense_Mutation	SNP	C	C	T	rs139157434		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:68939478C>T	uc003xxv.1	+	5	490	c.463C>T	c.(463-465)CGG>TGG	p.R155W	PREX2_uc003xxu.1_Missense_Mutation_p.R155W|PREX2_uc011lez.1_Missense_Mutation_p.R90W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCTTGGAGGACGGAAGAACAC	0.358												
PI15	51050	broad.mit.edu	37	8	75737570	75737570	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:75737570A>T	uc003yal.2	+	2	265	c.86A>T	c.(85-87)GAC>GTC	p.D29V	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D29V	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	29						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AATTCCACTGACTCATCCCCG	0.488												
TRPS1	7227	broad.mit.edu	37	8	116631899	116631899	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:116631899T>G	uc003ynz.2	-	2	846	c.387A>C	c.(385-387)CAA>CAC	p.Q129H	TRPS1_uc011lhy.1_Missense_Mutation_p.Q133H|TRPS1_uc003yny.2_Missense_Mutation_p.Q142H|TRPS1_uc010mcy.2_Missense_Mutation_p.Q129H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	129					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTCTGCTCTTTGCGGAGACT	0.527									Langer-Giedion_syndrome			
GPIHBP1	338328	broad.mit.edu	37	8	144297360	144297360	+	Silent	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr8:144297360C>T	uc003yxu.1	+	4	597	c.522C>T	c.(520-522)GCC>GCT	p.A174A		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	174	Helical; (Potential).				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCTCCTTGCCGGCCTTGGAG	0.711												
IFNA5	3442	broad.mit.edu	37	9	21304767	21304767	+	Silent	SNP	T	T	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:21304767T>A	uc011lnh.1	-	1	489	c.489A>T	c.(487-489)GCA>GCT	p.A163A		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	163					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAACCTCCCATGCACAAGGGC	0.408												
FRMD3	257019	broad.mit.edu	37	9	85863158	85863158	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:85863158T>G	uc004ams.1	-	14	1671	c.1469A>C	c.(1468-1470)GAA>GCA	p.E490A	FRMD3_uc004amr.1_Missense_Mutation_p.E476A|FRMD3_uc004amq.1_Missense_Mutation_p.E147A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	490						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						AAAGGCGTTTTCATCTGCTTC	0.478												
FAM129B	64855	broad.mit.edu	37	9	130279138	130279138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:130279138C>T	uc004brh.2	-	8	1173	c.971G>A	c.(970-972)CGA>CAA	p.R324Q	FAM129B_uc004bri.2_Missense_Mutation_p.R311Q|FAM129B_uc004brj.3_Missense_Mutation_p.R324Q	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	324							protein binding				0						CTGCCTACCTCGGATCTTGCT	0.547												
KIAA0649	9858	broad.mit.edu	37	9	138377878	138377878	+	Missense_Mutation	SNP	G	G	T	rs142927502		TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr9:138377878G>T	uc004cfr.1	+	4	2071	c.1522G>T	c.(1522-1524)GCA>TCA	p.A508S		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	508						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)		GTCCCTGTCCGCAAGCCCACT	0.602												
MXRA5	25878	broad.mit.edu	37	X	3239828	3239828	+	Missense_Mutation	SNP	T	T	C	rs41297257	byFrequency	TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:3239828T>C	uc004crg.3	-	5	4055	c.3898A>G	c.(3898-3900)AGA>GGA	p.R1300G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1300						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATATTTTTCTGGTGGTTGTC	0.368												
MSN	4478	broad.mit.edu	37	X	64957071	64957071	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:64957071A>C	uc004dwf.2	+	10	1320	c.1122A>C	c.(1120-1122)GAA>GAC	p.E374D		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	374					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GGGCTCTGGAACTTGAGCAGG	0.562			T	ALK	ALCL							
DOCK11	139818	broad.mit.edu	37	X	117752692	117752692	+	Splice_Site	SNP	G	G	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:117752692G>C	uc004eqp.2	+	31	3534	c.3471_splice	c.e31+1	p.K1157_splice	DOCK11_uc004eqq.2_Splice_Site_p.K936_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3						CCAGCACAAGGTAAGGATATC	0.338												
ATP11C	286410	broad.mit.edu	37	X	138871582	138871582	+	Silent	SNP	G	G	A			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:138871582G>A	uc004faz.2	-	13	1380	c.1281C>T	c.(1279-1281)TGC>TGT	p.C427C	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.C427C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	427	Cytoplasmic (Potential).				ATP biosynthetic process	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(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGCAGCATTCAATGA	0.343												
MAGEA3	4102	broad.mit.edu	37	X	151935401	151935401	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chrX:151935401G>C	uc004fgp.2	-	3	975	c.766C>G	c.(766-768)CTG>GTG	p.L256V		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	256	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTACTCCAGGTAGTTTTCC	0.542												
PARK2	5071	broad.mit.edu	37	6	161990447	161990448	+	Splice_Site	INS	-	-	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:161990446_161990447C>CT	uc021zhu.1	-	9	1104	c.1013_splice	c.e9-1	p.A338_splice	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Splice_Site_p.A100_splice|PARK2_uc010kkd.3_Splice_Site_p.A100_splice|PARK2_uc003qtx.4_Splice_Site_p.A291_splice|PARK2_uc021zhs.1_Splice_Site_p.A263_splice|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Splice_Site_p.A263_splice|PARK2_uc003qtz.4_Splice_Site_p.A142_splice|PARK2_uc021zhv.1_Splice_Site_p.A212_splice|PARK2_uc021zhw.1_Splice_Site_p.A100_splice|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Splice_Site_p.A291_splice|PARK2_uc010kke.1_Splice_Site_p.A310_splice|PARK2_uc011egf.2_Splice_Site	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	291					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGGACAGCCAGCTGTTGGAA	0.431												
DISP1	84976	broad.mit.edu	37	1	223178997	223178998	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:223178997_223178998delAG	uc001hnu.1	+	8	4405_4406	c.4258_4259delAG	c.(4258-4260)AGAfs	p.R1420fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1420					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTGTAAAAATAGAGACGTGAGC	0.480												
SGK494	124923	broad.mit.edu	37	17	26940497	26940498	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr17:26940497_26940498delCT	uc002hbr.1	-	2	316_317	c.284_285delAG	c.(283-285)GAGfs	p.E95fs	SGK494_uc010waq.1_Frame_Shift_Del_p.E95fs|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						TAATGGGAAACTCTGGTAGAAA	0.520											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PARK2	5071	broad.mit.edu	37	6	161990446	161990447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:161990446_161990447insT	uc003qtx.3	-	8	1007_1008	c.873_874insA	c.(871-876)GCTGGCfs	p.A291fs	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Frame_Shift_Ins_p.A100fs|PARK2_uc003qtw.3_Frame_Shift_Ins_p.A100fs|PARK2_uc003qty.3_Frame_Shift_Ins_p.A263fs|PARK2_uc003qtz.3_Frame_Shift_Ins_p.A142fs|PARK2_uc010kke.1_Frame_Shift_Ins_p.A310fs|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	291_292	SYT11 binding 2.|RING-type 1; atypical.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGGACAGCCAGCTGTTGGAA	0.431												
ST6GALNAC3	256435	broad.mit.edu	37	1	76779556	76779564	+	In_Frame_Del	DEL	AATGAAGTG	AATGAAGTG	-			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr1:76779555_76779563AAATGAAGTG>A	uc001dhh.2	+	1	247_255	c.84_92AAATGAAGTG>A	c.(82-93)gtaaatgaagtg>gtAg	p.28_31VNEV>V	ST6GALNAC3_uc001dhg.4_In_Frame_Del_p.28_31VNEV>V|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	28					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.V28I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCGTCTTGTAAATGAAGTGAATTTCCCA	0.416												
CENPO	79172	broad.mit.edu	37	2	25038399	25038410	+	In_Frame_Del	DEL	GTGTCTGCATCA	GTGTCTGCATCA	-			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr2:25038398_25038409TGTGTCTGCATCA>T	uc002rfq.2	+	4	494_505	c.367_378TGTGTCTGCATCA>T	c.(367-378)tgtgtctgcatc>T	p.CVCI123del	CENPO_uc002rfp.2_In_Frame_Del_p.CVCI117del	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	Homo sapiens centromere protein O (CENPO), transcript variant 1, mRNA.	123					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGAGGAGTTTGTGTCTGCATCAGTACTGCTT	0.481												
PARK2	5071	broad.mit.edu	37	6	161990447	161990448	+	Splice_Site	INS	-	-	T			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr6:161990446_161990447C>CT	uc021zhu.1	-	9	1104	c.1013_splice	c.e9-1	p.A338_splice	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Splice_Site_p.A100_splice|PARK2_uc010kkd.3_Splice_Site_p.A100_splice|PARK2_uc003qtx.4_Splice_Site_p.A291_splice|PARK2_uc021zhs.1_Splice_Site_p.A263_splice|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Splice_Site_p.A263_splice|PARK2_uc003qtz.4_Splice_Site_p.A142_splice|PARK2_uc021zhv.1_Splice_Site_p.A212_splice|PARK2_uc021zhw.1_Splice_Site_p.A100_splice|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Splice_Site_p.A291_splice|PARK2_uc010kke.1_Splice_Site_p.A310_splice|PARK2_uc011egf.2_Splice_Site	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	291					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGGACAGCCAGCTGTTGGAA	0.431												
TNKS2	80351	broad.mit.edu	37	10	93579300	93579301	+	In_Frame_Ins	INS	-	-	AGTGAT			TCGA-BR-A4QI-01A-12D-A25D-08	TCGA-BR-A4QI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699db1f3-e03d-4f08-89c9-40a77a78c2f1	9e553223-b1fc-43e1-b357-3f22bc1e89f5	g.chr10:93579299_93579300A>AAGTGAT	uc001khp.3	+	4	915_916	c.618_619A>AAGTGAT	c.(616-621)gcaagt>gcAAGTGATgt	p.208_209insD		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	208					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACTGCCACGCAAGTGATGGCAG	0.342